Journal articles: 'Social chromosome'

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Muers, Mary. "The social chromosome." Nature Reviews Genetics 14, no. 3 (January 29, 2013): 152–53. http://dx.doi.org/10.1038/nrg3427.

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Ruiz-Opazo, Nelson, and John Tonkiss. "Genome-wide scan for quantitative trait loci influencing spatial navigation and social recognition memory in Dahl rats." Physiological Genomics 26, no. 2 (July 2006): 145–51. http://dx.doi.org/10.1152/physiolgenomics.00019.2006.

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The genetic determinants of learning and memory have been difficult to unravel because of the complex inheritance of these forms of cognitive behavior encompassing multiple genetic and environmental factors. Indeed, genes that can account for strain and individual variations in learning and memory are largely unknown. Here we report a genome-wide scan for quantitative trait loci (QTLs) affecting spatial learning and memory and social recognition memory in an F2 population derived from Dahl rats. We detected five QTLs on chromosomes 1, 8, 11, 17, and 20 affecting spatial acquisition performance and five QTLs on chromosomes 2, 3, 9, and 20 influencing spatial accuracy (once information about the target location had been acquired). None of these QTLs overlap, indicating the existence of independent genetic determinants for these two distinct behavioral components of spatial navigation. Moreover, five QTLs affecting social recognition memory were detected, two on chromosome 9 and three on chromosome X. The chromosomal regions linked to social recognition memory performance in the rat are syntenic to regions that have been linked to autism in humans. Thus our results could have paradigmatic value in guiding the experimental investigation of similar pathways in genetic susceptibility to this disorder, which results in profound impairments in social behavior.

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Marchioro, Priscila, Lucio A. O. Campos, and Denilce M. Lopes. "First Record of a B Chromosome in Polybia fastidiosuscula Saussure (Vespidae) and Investigation of Chromatin Composition Through Microsatellite Mapping." Cytogenetic and Genome Research 160, no. 11-12 (2020): 711–18. http://dx.doi.org/10.1159/000513641.

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The characterization of karyotypes is an important aspect in understanding the structure and evolution of genomes. Polybia is a genus of social wasps of the family Vespidae. This genus has 58 species, but for only 8 of these chromosome number and morphology have been reported in the literature. The aim of this study was to describe and characterize the Polybia fastidiosuscula Saussure karyotype, presenting the first case of a B chromosome in Vespidae. In addition, we investigated the chromatin composition of this species through C-banding, base-specific fluorochrome staining, and physical mapping of 7 microsatellites and 18S rDNA. Four colonies of P. fastidiosuscula from Minas Gerais and Paraná states, Brazil, were analyzed. The chromosome number identified was 2n = 34, and 2 colonies presented a B chromosome. We characterized the chromatin composition of this species, analyzing the existence of different microsatellite-rich heterochromatic regions which are also enriched with AT or GC base pairs. We suggest an intraspecific origin of the B chromosome based on the homology of the heterochromatic composition with A chromosomes and also verify that the TTAGG and TCAGG sequences are not telomeric, but only microsatellites that occur in the centromeres of most chromosomes, as well as GAG and CGG.

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FERNANDES, ANDERSON, HUGO A. WERNECK, SILVIA G. POMPOLO, and DENILCE M. LOPES. "Evidence of separate karyotype evolutionary pathway in Euglossa orchid bees by cytogenetic analyses." Anais da Academia Brasileira de Ciências 85, no. 3 (September 2013): 937–44. http://dx.doi.org/10.1590/s0001-37652013005000050.

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Euglossini are solitary bees considered important pollinators of many orchid species. Information regarding chromosome organization is available for only a small number of species in this group. In the present work, the species Euglossa townsendi and E. carolina were analyzed by cytogenetic techniques to collect information that may aid the understanding of their evolution and chromosomal organization. The chromosome number found was n = 21 for males and 2n = 42 for females in the two species. The distribution and amount of heterochromatin regions differed in the two species analyzed, where they were classified as “high” or “low” heterochromatin content, similarly to what has already been performed in social bee species of the genus Melipona. Banding patterns found in this study suggest that other mechanisms may have occurred in the karyotype evolution of this group, unlike those suggested for social bees and ants. Karyotype evolution of solitary bees appears to have occurred as an event separate from other hymenopterans and did not involve chromosome fissions and heterochromatin amplification.

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Conceição, Emerson Vitor Calixto da, Aline Sayuri Minamihara, Maria Eliane Longhi Barroso, and Wagner José Martins Paiva. "Syndrome del(5)(q14~23),der(10)(p12p15)?add(10)(q26): Case report and literature review." Semina: Ciências Biológicas e da Saúde 38, no. 1supl (February 16, 2018): 243. http://dx.doi.org/10.5433/1679-0367.2017v38n1suplp243.

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Structural chromosomal mutations are changes that do not modify the number of chromosomes in the cell, but they determine the appearance of abnormal chromosomes. The aim of this study is to report the clinical and cytogenetic history of a patient carrier of a structural mutation with karyotype 46,XY,del(5)(q14~23),der(10)(p12p15)?add(10)(q26) attended by the Genetic Counseling Service of the State University of Londrina. The patient (ABT) is male, had 1 year and 9 months on the day of the examination, normally born, full term (38 weeks) with Psychomotor Development Retardation (PDR) and without other complications. At birth, ABT’s mother was 25 years old and his father was 31 years old. The x-ray, urine analysis, pre- and postnatal ultrasonography, parasitological, ophthalmologic, gastrointestinal and neurological exams do not reveal changes. At the time of cytogenetic examination, the patient underwent surgery for the treatment of esophagogastric reflux and inguinal hernia. Currently, ABT follows up with Pediatrician, Social Worker, Physiotherapist, Speech Therapist, Neuropediatrician, Nutritionist and Ophthalmologist. These findings, particularly PDR, were consistent with the rare syndrome of the 10q + chromosome, since only ten cases of trisomy for the distal segment of the major arm of chromosome 10 (10q +) were described. Excluding the PDR, other characteristics were not found in the trial. Structural chromosomal syndromes represent an opportunity to understand clinical phenotypes and become important in gene mapping, especially when associated with molecular genetic techniques, the next step in diagnostic genetic research. In this way, the patient follows the treatment of the symptomatology.

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MCPHIELALMANSINGH, A., L. TEJADA, J. WEAVER, and E. RISSMAN. "Sex chromosome complement affects social interactions in mice." Hormones and Behavior 54, no. 4 (September 2008): 565–70. http://dx.doi.org/10.1016/j.yhbeh.2008.05.016.

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Fitrianingrum, Iit, Annastasia Ediati, Tri Indah Winarni, and Sultana MH Faradz. "The Evaluation of Parental Acceptance Towards Children with Sex Chromosomal Disorders of Sex Development Using A Mixed-Method." Journal of Biomedicine and Translational Research 7, no. 1 (April 21, 2021): 14–21. http://dx.doi.org/10.14710/jbtr.v7i1.10710.

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Background: Sex chromosomal Disorder of sex development (DSD) is an atypical abnormality of external genitalia which is mismatched with its sex chromosome traits. The condition of children with DSD affects the dynamics in the family. Parents’ reactions after discovering this health problem vary greatly, such as being in a state of shock, confusion, or self-blame. However, parents’ acceptance is extremely important for better quality of caring, to the healthy social and emotional child development, and to make the best decisions regarding gender assignment.Objective: To describe the acceptance process of parents that have children with sex chromosomes mosaicism DSD.Methods: This study used a mixed-method with a sequential explanatory approach, which was preceded by quantitative data collection followed by qualitative. The total respondents consisted of 14 mothers and 12 fathers of 14 sex chromosome mosaicism DSD patients with XX/XY, X/XY, XYY or XXY variants. Quantitative data were collected using the Indonesian version of the Parental Acceptance-Rejection Questionnaire (PARQ), and interviews were conducted to determine the acceptance process.Results: Most acceptance cases were based on the surgical stage completion in which a higher number of mothers (71.43%) than fathers (50%).Conclusion: It is uneasy for parents to accept children with sex chromosome mosaicisms DSD, hence the fathers struggle more than mothers in accepting those affected. To the best of our knowledge this is the first study in Indonesia to help parent understand and accept their child condition.

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Maxson, Stephen C., Anne Didier-Erickson, and Sonoko Ogawa. "The Y chromosome, social signals, and offense in mice." Behavioral and Neural Biology 52, no. 2 (September 1989): 251–59. http://dx.doi.org/10.1016/s0163-1047(89)90369-5.

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Volkov, A. N., and L. V. Nacheva. "Сytogenetic techniques in current biomedical research. part i: history and theoretical basis of human cytogenetics." Fundamental and Clinical Medicine 6, no. 4 (December 28, 2021): 142–50. http://dx.doi.org/10.23946/2500-0764-2021-6-4-142-150.

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Cytogenetics is an essential part of human genetics which studies the structure of chromosomes and their collection which is called karyotype. Cytogenetic techniques are employed while interrogating DNA organisation and compaction. Analysis of the chromosomal structure contributes to uncovering the molecular basis of various cellular processes in normal and pathological conditions. Furthermore, spectrum and frequency of chromosome abnormalities serves as an indicator of mutagenic effects. Cytogenetic techniques became indispensable for discovering the genetic causes of human diseases at different stages of ontogenesis. Genetic abnormalities are a common cause of impaired reproductive function, abnormal pregnancy, and neonatal malformations. Genetic screening for chromosomal abnormalities and congenital anomalies is a powerful tool for reducing the genetic load in human populations as well as disease, psychological and social burden on families and societies. This paper begins the cycle of lectures on molecular basis of human cytogenetics, cytogenetic techniques, and the corresponding research and clinical applications. The lecture is primarily aimed at biomedical students and physicians who often have an unmet need to analyse and interpret the results of cytogenetic analyses.

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Reue, Karen, and Carrie B. Wiese. "Illuminating the Mechanisms Underlying Sex Differences in Cardiovascular Disease." Circulation Research 130, no. 12 (June 10, 2022): 1747–62. http://dx.doi.org/10.1161/circresaha.122.320259.

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Sex is a key risk factor for many types of cardiovascular disease. It is imperative to understand the mechanisms underlying sex differences to devise optimal preventive and therapeutic approaches for all individuals. Both biological sex (determined by sex chromosomes and gonadal hormones) and gender (social and cultural behaviors associated with femininity or masculinity) influence differences between men and women in disease susceptibility and pathology. Here, we focus on the application of experimental mouse models that elucidate the influence of 2 components of biological sex—sex chromosome complement (XX or XY) and gonad type (ovaries or testes). These models have revealed that in addition to well-known effects of gonadal hormones, sex chromosome complement influences cardiovascular risk factors, such as plasma cholesterol levels and adiposity, as well as the development of atherosclerosis and pulmonary hypertension. One mechanism by which sex chromosome dosage influences cardiometabolic traits is through sex-biased expression of X chromosome genes that escape X inactivation. These include chromatin-modifying enzymes that regulate gene expression throughout the genome. The identification of factors that determine sex-biased gene expression and cardiometabolic traits will expand our mechanistic understanding of cardiovascular disease processes and provide insight into sex differences that remain throughout the lifespan as gonadal hormone levels alter with age.

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Zhang, Jianzhong, Longyu Li, Qiaoqin Li, Zhonglin Cai, Binbin Wang, Jing Wang, and Hongjun Li. "Mosaic Ring-like Small Supernumerary Marker Chromosome and Gene Mutation in a Male With Intermittent Azoospermia: A Rare Case Report." American Journal of Men's Health 14, no. 2 (March 2020): 155798832091640. http://dx.doi.org/10.1177/1557988320916402.

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This study aimed to report a rare case of intermittent azoospermia and ring-like small supernumerary marker chromosomes (sSMCs). An infertile man was diagnosed with azoospermia presenting a normal male phenotype with complete masculinization. Karyotyping and polymerase chain reaction (PCR) were used to detect 16 sequence-tagged sites on the AZF subregions of the Y chromosome, and 115 candidate genes were screened for mutations. Mutations included single nucleotide variations, insertions, and deletions. Metaphase chromosomes were studied by standard trypsin-Giemsa banding; fluorescent in situ hybridization and PCR were performed to analyze specific Y chromosome regions; gene mutations were detected. Chromosomal analysis detected 117 metaphase cells; a mosaicism with marker 1 and marker 2 sSMCs in 2 metaphase cells (47, X, +mar1x2 karyotype), a mosaicism with marker 2 sSMCs in 14 metaphase cells (46, X, +mar2 karyotype), and a mosaicism with marker 1 sSMCs in 76 metaphase cells (46, X, +mar1 karyotype), coexisting with a 45,X cell line in the remaining 25 metaphase cells. PCR analysis showed the sY160 heterochromosome on the AZFc subregion was absent. Next-generation sequencing identified an asthenozoospermia-specific mutation in GAPDHS (rs2293681), and Sanger sequencing verified this mutation. This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. A mosaic 46, X, +mar1[76]/45, X[25]/46, X, +mar2[14]/47, X, +mar1x2[2] karyotype could be the main explanation for the azoospermia/severe oligospermia, while the likely pathogenic GAPDHS intron mutation may contribute to the symptom of immotile sperms detected in the semen analysis.

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Thompson, Talia, Shanlee Davis, Stephanie Takamatsu, Susan Howell, and Nicole Tartaglia. "Exploring academic and character strengths in students with sex chromosome aneuploidies." Journal of Positive School Psychology 6, no. 1 (June 17, 2021): 12–24. http://dx.doi.org/10.47602/jpsp.v6i1.262.

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Children with sex chromosome aneuploidies (SCAs) are often characterized in the literature by limitations and pathologies related to the genetic diagnosis. This study aimed to broaden the SCA phenotype by describing parent reported character and academic strengths. Parents of children with SCAs ages 3-21 (N=377) responded to an electronic survey asking them to describe their child’s strengths in academic settings. Responses were coded for strengths-based content and analyzed using a mixed-methods content analysis approach. We identified overarching qualitative themes of Social Strengths and Assets for Learning. Quantitative results showed a pattern of overlapping strengths among the trisomy SCAs (perseverance and love of learning), with some significant differences between children with supernumerary X chromosomes (strengths in kindness) and those with an additional Y chromosome (strengths in curiosity, humor, and teamwork). Suggestions for future strengths-based research and educational practices to address academic, developmental, and psychosocial risks are explored.

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Balakrishnan, Christopher N., Charles Chapus, Michael S. Brewer, and David F. Clayton. "Brain transcriptome of the violet-eared waxbill Uraeginthus granatina and recent evolution in the songbird genome." Open Biology 3, no. 9 (September 2013): 130063. http://dx.doi.org/10.1098/rsob.130063.

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Songbirds are important models for the study of social behaviour and communication. To complement the recent genome sequencing of the domesticated zebra finch, we sequenced the brain transcriptome of a closely related songbird species, the violet-eared waxbill ( Uraeginthus granatina ) . Both the zebra finch and violet-eared waxbill are members of the family Estrildidae, but differ markedly in their social behaviour. Using Roche 454 RNA sequencing, we generated an assembly and annotation of 11 084 waxbill orthologues of 17 475 zebra finch genes (64%), with an average transcript length of 1555 bp. We also identified 5985 single nucleotide polymorphisms (SNPs) of potential utility for future population genomic studies. Comparing the two species, we found evidence for rapid protein evolution ( ω ) and low polymorphism of the avian Z sex chromosome, consistent with prior studies of more divergent avian species. An intriguing outlier was putative chromosome 4A, which showed a high density of SNPs and low evolutionary rate relative to other chromosomes. Genome-wide ω was identical in zebra finch and violet-eared waxbill lineages, suggesting a similar demographic history with efficient purifying natural selection. Further comparisons of these and other estrildid finches may provide insights into the evolutionary neurogenomics of social behaviour.

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Gilmore, Linda, and Marilyn Campbell. "‘Give Me a Name for What's Wrong With Him’: A Case Study of a Rare Chromosome Disorder." Australian Journal of Guidance and Counselling 16, no. 2 (December 1, 2006): 225–32. http://dx.doi.org/10.1375/ajgc.16.2.225.

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AbstractThe case is presented of a young boy with a rare chromosome disorder involving an interstitial deletion on chromosome 16 (16q11.2q13). Background information on chromosome disorders is presented along with a review of previous findings about the developmental consequences of chromosome 16q deletions. The case description illustrates the developmental and educational difficulties that may be associated with rare chromosome disorders and raises some important issues for guidance and counselling professionals.

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Sluyter, Frans, Jaap M. Koolhaas, and Geert A. Van Oortmerssen. "Genetic Influences On Coping Behaviour in House Mouse Lines Selected for Aggression: Effects of the y cHromosome." Behaviour 133, no. 1-2 (1996): 117–28. http://dx.doi.org/10.1163/156853996x00062.

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AbstractMale wild house mice selected for Short Attack Latency (SAL) show an active coping style to environmental challenges, whereas males selected for Long Attack Latency (LAL) generally exhibit a passive coping style. Previous studies showed that the aggressive SAL males develop routines more quickly and show more resistance to environmental changes than the less aggressive LAL ones; the latter behave more flexibly in non-social situations. Furthermore, using reciprocal F1s and backcross lines for SAL and LAL males, a Y chromosomal effect on aggression has been demonstrated. The aim of this study was to examine possible effects of the Y chromosome on behavioural flexibility. For this purpose six genotypes (SAL, LAL, their reciprocal F1s and their congenics for the non-pseudoautosomal part of the Y chromosome) were tested for their behavioural flexibility in a Y-maze. Differences between SAL and LAL were reproduced. Congenic lines showed identical scores to their parental ones. Regarding the reciprocal F1s, differences in aggression were not associated with behavioural flexibility. Therefore, it may be concluded that the Y chromosome does not influence aggression-related behavioural flexibility.

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Mohammed Khalifa, Amany, Shaima Saad Aljohani, and Fauziah Abdullah Alshammari. "Assessment of Knowledge and Awareness of Down syndrome in Ha’il City Community, KSA." Pakistan Journal of Medical and Health Sciences 16, no. 2 (February 26, 2022): 491–96. http://dx.doi.org/10.53350/pjmhs22162491.

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Background: Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby. The aim: the present study builded the interest to assess the knowledge and awareness of definition, causes, symptoms, diagnosis, complication, and treatment of Down Syndrome ( DS ) in Hail City and tried to improve the false thoughts about this disease. Material: A cross-sectional survey was distributed throughout in Hail City between October 2021 to April 2022. An online questionnaire was designed. It included informed consent and 10 questions about the sociodemographic data and questions regarding signs, symptoms, complications and management about DS. It was distributed via various social media apps. Methods: SPSS for Windows v22.0 IBM Inc..SPSS for windows Rel 15.0 2006 Chicago Inc. Results: The result of the present study revealed that the overall level of awareness about Down syndrome was moderate (65.7 %). More Health education for public, online seminars and more research are needed to raise the public awareness and spotlight to patients suffering from this syndrome. Keywords: Down Syndrome, genetic disease, awareness, Ha’il, KSA,

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Smith, Shelley D., Philip M. Kelley, James W. Askew, Denise M. Hoover, Karen E. Deffenbacher, Javier Gayán, Amy M. Brower, and Richard K. Olson. "Reading Disability and Chromosome 6p21.3." Journal of Learning Disabilities 34, no. 6 (November 2001): 512–19. http://dx.doi.org/10.1177/002221940103400604.

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VAN RIJN, SOPHIE, ANDRÉ ALEMAN, HANNA SWAAB, TESSEL KRIJN, GUY VINGERHOETS, and RENÉ S. KAHN. "What it is said versus how it is said: Comprehension of affective prosody in men with Klinefelter (47,XXY) syndrome." Journal of the International Neuropsychological Society 13, no. 6 (October 18, 2007): 1065–70. http://dx.doi.org/10.1017/s1355617707071044.

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Difficulties in social communication in individuals with Klinefelter syndrome (XXY chromosomal pattern) have largely been attributed to deficits in left hemisphere-mediated, language functions. This study examined the ability of XXY men to decode emotions from tone of voice, a pragmatic aspect of social communication that may be associated with right hemisphere functioning. A total of 26 XXY men and 20 men from the general population completed tasks involving emotion discrimination in speech, based on verbal content or tone of voice. The XXY group displayed relative difficulties in discriminating emotions in tone of voice, and, to a lesser extend, in verbal content. This finding suggests that the XXY chromosomal pattern may not only be associated with difficulties in semantic aspects of language, but with prosodic aspects, as well. Our findings may contribute to the development of more comprehensive models addressing the role of the X chromosome in normal and abnormal development of social communication. (JINS, 2007, 13, 1065–1070.)

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Merelli, Ivan, Pietro Liò, and Luciano Milanesi. "Describing the genes social networks relying on chromosome conformation capture data." EMBnet.journal 19, B (October 14, 2013): 73. http://dx.doi.org/10.14806/ej.19.b.735.

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Menezes, R. S. T., A. F. Carvalho, J. P. S. O. Correia, T. S. Silva, A. Somavilla, and M. A. Costa. "Evolutionary trends in the chromosome numbers of swarm-founding social wasps." Insectes Sociaux 61, no. 4 (September 3, 2014): 385–93. http://dx.doi.org/10.1007/s00040-014-0365-3.

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Lyons, Alan Bruce, and Susanne Heinzel. "Chromosome social distancing and crowd control: the dual role of Ki67." Immunology & Cell Biology 98, no. 9 (September 25, 2020): 712–14. http://dx.doi.org/10.1111/imcb.12395.

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Isasi, M., A. Arroita, N. Periañez, and K. Ugarte. "Klinefelter's Syndrome and psychiatric pathology: a case report." European Psychiatry 26, S2 (March 2011): 806. http://dx.doi.org/10.1016/s0924-9338(11)72511-1.

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IntroductionThe presence of an extra X-chromosome, also known as Klinefelter's Syndrome, occurs in approximately 1 in 500 live male births. Epidemiological studies have reported an increased vulnerability to psychiatric disturbances in this group of patients and suggest that the X chromosome may be involved in the aetiology.Material and MethodsComprehensive review of the scientific literature (Medline, Ovid) on Psychiatric pathology in Klinefelter's Syndrome published over the last 20 years.ResultsThis is a case report of a 27 year-old-male with Klinefelter's Syndrome confirmed by karyotyping (XXY), suffering from different neuropsychiatric disorders, such as mental retardation, dyslexia, ADHD and social dysfunctioning. Since the age of 16 he has required multiple psychiatric hospitalizations due to his impulse control difficulties and exaggerated mood swings.This case raises the question of whether Klinefelter's syndrome patients are predisposed to psychiatric pathology (including Schizophrenia, Bipolar Disorder, Anorexia Nervosa or social-emotional processing) at a genetic level.ConclusionsReviews of the neuropsychiatric problems associated with Klinefelter's Syndrome confirm an association between disorders in this area and the chromosomal abnormality. Further studies are needed to identify involvement of X-linked epigenetic influence and susceptibility to several psychiatric diseases.

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Skov, Laurits, Stéphane Peyrégne, Divyaratan Popli, Leonardo N. M. Iasi, Thibaut Devièse, Viviane Slon, Elena I. Zavala, et al. "Genetic insights into the social organization of Neanderthals." Nature 610, no. 7932 (October 19, 2022): 519–25. http://dx.doi.org/10.1038/s41586-022-05283-y.

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AbstractGenomic analyses of Neanderthals have previously provided insights into their population history and relationship to modern humans1–8, but the social organization of Neanderthal communities remains poorly understood. Here we present genetic data for 13 Neanderthals from two Middle Palaeolithic sites in the Altai Mountains of southern Siberia: 11 from Chagyrskaya Cave9,10 and 2 from Okladnikov Cave11—making this one of the largest genetic studies of a Neanderthal population to date. We used hybridization capture to obtain genome-wide nuclear data, as well as mitochondrial and Y-chromosome sequences. Some Chagyrskaya individuals were closely related, including a father–daughter pair and a pair of second-degree relatives, indicating that at least some of the individuals lived at the same time. Up to one-third of these individuals’ genomes had long segments of homozygosity, suggesting that the Chagyrskaya Neanderthals were part of a small community. In addition, the Y-chromosome diversity is an order of magnitude lower than the mitochondrial diversity, a pattern that we found is best explained by female migration between communities. Thus, the genetic data presented here provide a detailed documentation of the social organization of an isolated Neanderthal community at the easternmost extent of their known range.

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Rheinberger, Hans-Jörg. "Following the chromosome through history." Metascience 30, no. 2 (March 21, 2021): 301–3. http://dx.doi.org/10.1007/s11016-021-00632-5.

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Magsi, Irshad Ali, Nazish Jaffar, Aqsa Noureen, Aliya Zaman, Ghulam Murtaza Jamali, Humaira Ahmed, Hareem Arshad, Muhammad Wasi Abbas, and Shahwar Bughio. "Evaluation of Chromosomal Abnormalities in Acute Myeloid Leukemia (AML) and Acute Lymphoid Leukemia (ALL)." Pakistan Journal of Medical and Health Sciences 16, no. 1 (January 30, 2022): 490–93. http://dx.doi.org/10.53350/pjmhs22161490.

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Background: The present study evaluated the chromosomal and molecular variations in patients of acute myeloid leukemia (AML) and acute lymphoid leukemia (ALL). Methods and Materials: A cross-sectional study was conducted at the Department of Oncology at a tertiary care center between April 2018 and June 2021. A total of 314 cases of acute myeloid and lymphoid leukemias were evaluated. Molecular and cytogenetic tests were conducted on these patients. Peripheral and bone marrow smears of all the subjects were sent to the laboratory for molecular and cytogenetic studies. The diagnosis was confirmed with morphology and specific staining, such as Gimsa, myeloperoxidase, molecular, and cytogenetic findings. The results of BM karyotype were classified as normal diploid, hypo and hyper diploid, complex karyotype, and pseudo-diploid. Data was explored using Statistical Package for the Social Sciences (SPSS) version 26. Results: A total of 314 patients were included in the study. Around 40 percent were diagnosed with AML while the 60% had ALL. The mean age of patients was 31.5 +/- 5.6 years. The karyotype revealed that 55.4% were normal diploid, 5.2% were hypo-diploid, 8.4% were hyper-diploid, 18.54% were pseudo-diploid, and the remainder had complex karyotype. A significant difference was observed between the acute leukemia and mean age (P < 0.001). The mean age of acute myeloid leukemia (AML) patients was significantly higher than acute lymphoid leukemia (ALL). The pseudodiploid pattern was meaningfully more frequent in the AML patients compared with that in the MDS and ALL patients (P < 0.001). Chromosomal abnormalities including monosomy of chromosome 14 and trisomy of chromosome 3 were the most prevalent. Conclusion: The current study revealed the variations in the chromosomal abnormalities in patients with acute myeloid leukemia (AML) and acute lymphoid leukemia (ALL). The specific patterns associated with particular leukemia can help establish early diagnosis. Keywords: acute myeloid leukemia, acute lymphoid leukemia, chromosome, hematology, malignancy

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Wang, John, Yannick Wurm, Mingkwan Nipitwattanaphon, Oksana Riba-Grognuz, Yu-Ching Huang, DeWayne Shoemaker, and Laurent Keller. "A Y-like social chromosome causes alternative colony organization in fire ants." Nature 493, no. 7434 (January 2013): 664–68. http://dx.doi.org/10.1038/nature11832.

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Newkirk, Bailey. "A-154 Chromosome 18q Deletion & Chromosome 18p Duplication: A Neuropsychological Case Study." Archives of Clinical Neuropsychology 37, no. 6 (August 17, 2022): 1308. http://dx.doi.org/10.1093/arclin/acac060.154.

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Abstract Objective: The client presents with partial deletion of chromosome 18q and partial duplication of chromosome 18p, occurring in 1 in 55,000 individuals and less than 1 in 1,000,000 individuals, respectively. Deletions of chromosome 18q are often characterized by hypotonia, seizures, psychomotor retardation, and intellectual disability. Duplications of chromosome 18p are characterized by intellectual disability, epilepsy, hypotonia, developmental delay, and attention deficits. Method: The client is a 5-year-old male, who was diagnosed with the above-mentioned genetic disorders and Chiari malformation at age 2. Additionally, the client presents with a speech delay and low muscle tone. The client’s parents sought testing to clarify his cognitive and emotional functioning in light of his genetic disorders to inform treatment and supports. Results: Nonverbal intellectual assessment was in the average range. Academic achievement noted low average reading skills, impaired math abilities, and borderline impaired spelling. Neuropsychologically, impairments were noted in verbal memory, simple auditory attention, semantic fluency, visual perception, motor coordination, visual motor integration, and affect recognition. Mild to moderate inefficiencies were in visual memory, auditory comprehension of instructions, response inhibition, fine motor dexterity, and perspective taking. Otherwise, the client performed in the average range on tasks of behavioral inhibition and persistence, expressive language, and receptive language. Conclusions: Given the limited literature, it is expected these genetic disorders will be associated with intellectual disabilities and attentional difficulties. However, the client’s IQ is in the average range, and he presents with potential learning disorders in reading, writing, and mathematics with associated attention, memory, visual-motor, verbal fluency, and social perception difficulties.

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Griffiths, David Andrew. "Shifting syndromes: Sex chromosome variations and intersex classifications." Social Studies of Science 48, no. 1 (February 2018): 125–48. http://dx.doi.org/10.1177/0306312718757081.

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The 2006 ‘Consensus statement on management of intersex disorders’ recommended moving to a new classification of intersex variations, framed in terms of ‘disorders of sex development’ or DSD. Part of the rationale for this change was to move away from associations with gender, and to increase clarity by grounding the classification system in genetics. While the medical community has largely accepted the move, some individuals from intersex activist communities have condemned it. In addition, people both inside and outside the medical community have disagreed about what should be covered by the classification system, in particular whether sex chromosome variations and the related diagnoses of Turner and Klinefelter’s syndromes should be included. This article explores initial descriptions of Turner and Klinefelter’s syndromes and their subsequent inclusion in intersex classifications, which were increasingly grounded in scientific understandings of sex chromosomes that emerged in the 1950s. The article questions the current drive to stabilize and ‘sort out’ intersex classifications through a grounding in genetics. Alternative social and historical definitions of intersex – such as those proposed by the intersex activists – have the potential to do more justice to the lived experience of those affected by such classifications and their consequences.

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Xie, Zhenzhen, Dengdong Wang, Shoujia Jiang, Cheng Peng, Qing Wang, Chunren Huang, Shuisheng Li, Haoran Lin, and Yong Zhang. "Chromosome-Level Genome Assembly and Transcriptome Comparison Analysis of Cephalopholis sonnerati and Its Related Grouper Species." Biology 11, no. 7 (July 13, 2022): 1053. http://dx.doi.org/10.3390/biology11071053.

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The tomato hind, Cephalopholis sonnerati, is a bottom-dwelling coral reef fish, which is widely distributed in the Indo-Pacific and Red Sea. C. sonnerati also features complex social structures and behaviour mechanisms. Here, we present a high-quality, chromosome-level genome assembly for C. sonnerati that was derived using PacBio sequencing and Hi-C technologies. A 1043.66 Mb genome with an N50 length of 2.49 Mb was assembled, produced containing 795 contigs assembled into 24 chromosomes. Overall, 97.2% of the complete BUSCOs were identified in the genome. A total of 26,130 protein-coding genes were predicted, of which 94.26% were functionally annotated. Evolutionary analysis revealed that C. sonnerati diverged from its common ancestor with E. lanceolatus and E. akaara approximately 41.7 million years ago. In addition, comparative genome analyses indicated that the expanded gene families were highly enriched in the sensory system. Finally, we found the tissue-specific expression of 8108 genes. We found that these tissue-specific genes were highly enriched in the brain. In brief, the high-quality, chromosome-level reference genome will provide a valuable genome resource for studies of the genetic conservation, resistance breeding, and evolution of C. sonnerati.

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Xenophontos, Anastasia, Jakob Seidlitz, Siyuan Liu, Liv S. Clasen, Jonathan D. Blumenthal, Jay N. Giedd, Aaron Alexander-Bloch, and Armin Raznahan. "Altered Sex Chromosome Dosage Induces Coordinated Shifts in Cortical Anatomy and Anatomical Covariance." Cerebral Cortex 30, no. 4 (December 11, 2019): 2215–28. http://dx.doi.org/10.1093/cercor/bhz235.

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Abstract Sex chromosome dosage (SCD) variation increases risk for neuropsychiatric impairment, which may reflect direct SCD effects on brain organization. Here, we 1) map cumulative X- and Y-chromosome dosage effects on regional cortical thickness (CT) and investigate potential functional implications of these effects using Neurosynth, 2) test if this map is organized by patterns of CT covariance that are evident in health, and 3) characterize SCD effects on CT covariance itself. We modeled SCD effects on CT and CT covariance for 308 equally sized regions of the cortical sheet using structural neuroimaging data from 301 individuals with varying numbers of sex chromosomes (169 euploid, 132 aneuploid). Mounting SCD increased CT in the rostral frontal cortex and decreased CT in the lateral temporal cortex, bilaterally. Regions targeted by SCD were associated with social functioning, language processing, and comprehension. Cortical regions with a similar degree of SCD-sensitivity showed heightened CT covariance in health. Finally, greater SCD also increased covariance among regions similarly affected by SCD. Our study both 1) develops novel methods for comparing typical and disease-related structural covariance networks in the brain and 2) uses these techniques to resolve and identify organizing principles for SCD effects on regional cortical anatomy and anatomical covariance.

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Wilson, Alexander C., Judith King, and Dorothy V. M. Bishop. "Autism and social anxiety in children with sex chromosome trisomies: an observational study." Wellcome Open Research 4 (February 15, 2019): 32. http://dx.doi.org/10.12688/wellcomeopenres.15095.1.

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Background: Recent studies suggest that an extra sex chromosome increases the risk of both autism and social anxiety, but it unclear whether these risks are specific to particular karyotypes. Methods: We considered diagnostic data from an online psychiatric assessment (DAWBA – The Development and Well-Being Assessment) and questionnaire responses completed by parents of children with 47,XXX (N = 29), 47,XXY (N = 28) and 47,XYY (N = 32) karyotypes. Analysis focused mainly on 54 children who were diagnosed prenatally or on the basis of other medical concerns in childhood (Low Bias subgroup), to minimise ascertainment bias. Results: Children with symptoms of autism who fell short of meeting the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV criteria were coded as cases of Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS). The odds ratio of autism or PDDNOS in the Low Bias group was computed relative to gender-specific population norms. This gave log odds ratio (95% confidence interval) of 5.56 (4.25 - 6.88) for XXX girls; 4.00 (2.66 - 5.33) for XXY boys; and 4.60 (3.46 - 5.74) for XYY boys. Despite this elevated risk, most children had no autistic features. A diagnosis of DSM-IV Social Phobia was rare, though, in line with prediction, all three Low Bias cases with this diagnosis had 47,XXY karyotype. All three trisomy groups showed increased risk of milder symptoms of social anxiety. Conclusions: An increased risk of autism was found in girls with 47,XXX karyotype, as well as in boys with 47,XXY or 47,XYY. Symptoms of social anxiety were increased in all three karyotypes. There was wide variation in psychiatric status of children with the same karyotype, suggesting that an extra sex chromosome affects developmental stability in a non-specific way, with a diverse range of possible phenotypes.

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Wilson, Alexander C., Judith King, and Dorothy V. M. Bishop. "Autism and social anxiety in children with sex chromosome trisomies: an observational study." Wellcome Open Research 4 (September 2, 2019): 32. http://dx.doi.org/10.12688/wellcomeopenres.15095.2.

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Background: Recent studies suggest that an extra sex chromosome increases the risk of both autism and social anxiety, but it unclear whether these risks are specific to particular karyotypes. Methods: We considered diagnostic data from an online psychiatric assessment (DAWBA – The Development and Well-Being Assessment) and questionnaire responses completed by parents of children with 47,XXX (N = 29), 47,XXY (N = 28) and 47,XYY (N = 32) karyotypes. Analysis focused mainly on 54 children who were diagnosed prenatally or on the basis of other medical concerns in childhood (Low Bias subgroup), to minimise ascertainment bias. Results: Children with symptoms of autism who fell short of meeting the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV criteria were coded as cases of Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS). The odds ratio of autism or PDDNOS in the Low Bias group was computed relative to gender-specific population norms. This gave log odds ratio (95% confidence interval) of 5.56 (4.25 - 6.88) for XXX girls; 4.00 (2.66 - 5.33) for XXY boys; and 4.60 (3.46 - 5.74) for XYY boys. Despite this elevated risk, most children had no autistic features. A diagnosis of DSM-IV Social Phobia was rare, though, in line with prediction, all three Low Bias cases with this diagnosis had 47,XXY karyotype. All three trisomy groups showed increased risk of milder symptoms of social anxiety. Conclusions: An increased risk of autism was found in girls with 47,XXX karyotype, as well as in boys with 47,XXY or 47,XYY. Symptoms of social anxiety were increased in all three karyotypes. There was wide variation in psychiatric status of children with the same karyotype, suggesting that an extra sex chromosome affects developmental stability in a non-specific way, with a diverse range of possible phenotypes.

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Visootsak, Jeannie, and John M. Graham. "Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY." Developmental Disabilities Research Reviews 15, no. 4 (2009): 328–32. http://dx.doi.org/10.1002/ddrr.76.

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Dubal, Dena. "X CHROMOSOME-DERIVED MECHANISMS OF SEX DIFFERENCES IN LIFESPAN AND BRAIN AGING." Innovation in Aging 6, Supplement_1 (November 1, 2022): 165. http://dx.doi.org/10.1093/geroni/igac059.659.

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Abstract Women live longer than men worldwide – and also show cognitive resilience in many aging populations. One major source of biologic difference between the sexes is that females have two X chromosomes and males have one. This difference in sex chromosome complement causes unique X-derived mechanisms that are sex-specific. In mammalian development, one X randomly inactivates in XX cells. One X-derived sex difference is that females are mosaics with the active X chromosome in each cell being either maternally-derived (Xm) or paternally-derived (Xp), whereas males harbor only a maternally-derived X (Xm) in all cells. Interestingly, some females show considerable or complete skew toward Xm or Xp. We utilized several genetic models of sex biology to understand mechanisms of sex difference in aging. We found that the X chromosome contributes to longevity and better cognition in male and female mice. In aging, a genetic manipulation in females to express only the maternally-derived X (Xm), like males, accelerated cognitive decline and epigenetic brain aging. This suggests that Xm is harmful and that female mosaicism (Xm+Xp) provides a buffer to deleterious processes in aging. To assess if Xm alters transcription, we used mice with nuclear localized genetic reporters and sorted Xm from Xp neurons from young and aging XX hippocampi. We found that Xm imprinted several genes within aging hippocampal neurons, suggesting silenced cognitive loci. Our data suggests that Xm – the maternal X – accelerates brain aging and causes cognitive deficits. Understanding how Xm impairs brain function could increase understanding of female heterogeneity and of sex differences in cognitive heath – and unlock new X-derived pathways against cognitive deficits and brain aging of males, females, or both.

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Abreu, Isabella Santiago, Carlos Roberto Carvalho, Guilherme Mendes Almeida Carvalho, and Sérgio Yoshimitsu Motoike. "First karyotype, DNA C-value and AT/GC base composition of macaw palm (Acrocomia aculeata, Arecaceae) - a promising plant for biodiesel production." Australian Journal of Botany 59, no. 2 (2011): 149. http://dx.doi.org/10.1071/bt10245.

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The oleaginous species Acrocomia aculeata produces high-quality oil and is considered a potential plant for sustainable production of food and biodiesel. In spite of its economical, social and environmental importance, few data concerning the genome size and chromosomal characterisation of this crop have been reported. In order to contribute to basic genetic knowledge on A. aculeata, this work aimed to assemble the first karyogram and to determine genome size and base composition of this species. Concerning the cytogenetic approach, we developed a protocol based on root tips treatment with an anti-mitotic agent, followed by enzymatic maceration and slide preparation by the air-drying technique. This method provided well resolved metaphasic chromosomes, which are important for an accurate and informative cytogenetical characterisation. A chromosome number of 2n = 30 was observed. Content of 2C DNA and base composition were estimated by flow cytometry of G0/G1 nuclei stained with propidium iodide and 4′,6-diamidino-2-phenylindole, respectively. The mean 2C-value and base composition corresponded to 2C = 5.81 pg and AT = 58.3%. These new data support basic genetic knowledge on A. aculeata, relevant for its conservation, diversity studies and consequent development of breeding programs, which may foment the biofuel production in the world.

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Cascella, Marco, Maria Rosaria Muzio, Federica Monaco, Davide Nocerino, Alessandro Ottaiano, Francesco Perri, and Massimo Antonio Innamorato. "Pathophysiology of Nociception and Rare Genetic Disorders with Increased Pain Threshold or Pain Insensitivity." Pathophysiology 29, no. 3 (August 2, 2022): 435–52. http://dx.doi.org/10.3390/pathophysiology29030035.

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Pain and nociception are different phenomena. Nociception is the result of complex activity in sensory pathways. On the other hand, pain is the effect of interactions between nociceptive processes, and cognition, emotions, as well as the social context of the individual. Alterations in the nociceptive route can have different genesis and affect the entire sensorial process. Genetic problems in nociception, clinically characterized by reduced or absent pain sensitivity, compose an important chapter within pain medicine. This chapter encompasses a wide range of very rare diseases. Several genes have been identified. These genes encode the Nav channels 1.7 and 1.9 (SCN9A, and SCN11A genes, respectively), NGFβ and its receptor tyrosine receptor kinase A, as well as the transcription factor PRDM12, and autophagy controllers (TECPR2). Monogenic disorders provoke hereditary sensory and autonomic neuropathies. Their clinical pictures are extremely variable, and a precise classification has yet to be established. Additionally, pain insensitivity is described in diverse numerical and structural chromosomal abnormalities, such as Angelman syndrome, Prader Willy syndrome, Chromosome 15q duplication syndrome, and Chromosome 4 interstitial deletion. Studying these conditions could be a practical strategy to better understand the mechanisms of nociception and investigate potential therapeutic targets against pain.

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Taylor-Alexander, Sam, and Sharyn Davies. "Temporal Orders and Y Chromosome Futures: Of Mice, Monkeys, and Men." Catalyst: Feminism, Theory, Technoscience 5, no. 1 (April 1, 2019): 1–18. http://dx.doi.org/10.28968/cftt.v5i1.30987.

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We bring together conceptual readings of time and temporality to discuss evolutionary theories of Y chromosome degeneration as they are spoken about in scientific and popular forums. In doing so, we suggest that debates over Y chromosome degeneration involve a form of abduction – tacking back and forth between different pasts, presents, futures – that frames templates for producing and securing sexed and gendered presents. Here we are using ‘sexed’ as a way of talking about physical bodies and ‘gendered’ as social ways of constructing those sexed bodies. We suggest that arguments over Y chromosome degeneration are as important for current debates surrounding sex, gender, science, molecular biology and a “crisis of masculinity” as they are for (ascertaining) the future of human evolution.

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Lowe, Jennifer K., Donna M. Werling, John N. Constantino, Rita M. Cantor, and Daniel H. Geschwind. "Social Responsiveness, an Autism Endophenotype: Genomewide Significant Linkage to Two Regions on Chromosome 8." American Journal of Psychiatry 172, no. 3 (March 2015): 266–75. http://dx.doi.org/10.1176/appi.ajp.2014.14050576.

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Cox, Kimberly H., Kayla M. Quinnies, Alex Eschendroeder, Paula M. Didrick, Erica A. Eugster, and Emilie F. Rissman. "Number of X-chromosome genes influences social behavior and vasopressin gene expression in mice." Psychoneuroendocrinology 51 (January 2015): 271–81. http://dx.doi.org/10.1016/j.psyneuen.2014.10.010.

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Hiroi, Noboru, and Takahira Yamauchi. "Modeling and Predicting Developmental Trajectories of Neuropsychiatric Dimensions Associated With Copy Number Variations." International Journal of Neuropsychopharmacology 22, no. 8 (May 28, 2019): 488–500. http://dx.doi.org/10.1093/ijnp/pyz026.

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AbstractCopy number variants, such as duplications and hemizygous deletions at chromosomal loci of up to a few million base pairs, are highly associated with psychiatric disorders. Hemizygous deletions at human chromosome 22q11.2 were found to be associated with elevated instances of schizophrenia and autism spectrum disorder in 1992 and 2002, respectively. Following these discoveries, many mouse models have been developed and tested to analyze the effects of gene dose alterations in small chromosomal segments and single genes of 22q11.2. Despite several limitations to modeling mental illness in mice, mouse models have identified several genes on 22q11.2—Tbx1, Dgcr8, Comt, Sept5, and Prodh—that contribute to dimensions of autism spectrum disorder and schizophrenia, including working memory, social communication and interaction, and sensorimotor gating. Mouse studies have identified that heterozygous deletion of Tbx1 results in defective social communication during the neonatal period and social interaction deficits during adolescence/adulthood. Overexpression of Tbx1 or Comt in adult neural progenitor cells in the hippocampus delays the developmental maturation of working memory capacity. Collectively, mouse models of variants of these 4 genes have revealed several potential neuronal mechanisms underlying various aspects of psychiatric disorders, including adult neurogenesis, microRNA processing, catecholamine metabolism, and synaptic transmission. The validity of the mouse data would be ultimately tested when therapies or drugs based on such potential mechanisms are applied to humans.

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Baruffi, Marcelo Razera, Deise Helena de Souza, Rosana Aparecida Bicudo da Silva, Ester Silveira Ramos, and Danilo Moretti-Ferreira. "Autism Spectrum Disorder in a Girl with aDe NovoX;19 Balanced Translocation." Case Reports in Genetics 2012 (2012): 1–4. http://dx.doi.org/10.1155/2012/578018.

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Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with ade novoX;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed ade novobalanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated withde novobalanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.

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Osaka, Akiyoshi, Hisamitsu Ide, Kentaro Matsuoka, Toshiyuki Iwahata, Yoshitomo Kobori, Shinichi Ban, Hiroshi Okada, and Kazutaka Saito. "SRY-Positive 46, XX Testicular Disorder of Sexual Development With Leydig Cell Tumor." American Journal of Men's Health 14, no. 5 (September 2020): 155798832097007. http://dx.doi.org/10.1177/1557988320970071.

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The risk of a gonadal tumor is high in testicular disorder of sexual development (DSD) with the Y chromosome, but cases of DSD without the Y chromosome are extremely rare. We reported a gonadal tumor in a phenotypically male individual with 46, XX testicular DSD. A testicular tumor was incidentally found in a 32-year-old phenotypic male who was presented to the hospital with male infertility. A diagnosis of 46, XX testicular DSD was made by the presentation of karyotype analysis of 46, XX with the sex-determining region of the Y chromosome (SRY) positive and gonadal tissue without female gonads. Surgery was performed due to a gradually growing tumor. The partial orchidectomy was performed with the diagnosis of a benign Leydig cell tumor in frozen biopsy.

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Nurtjahyo, Awan, Asep Nurul Huda, A. Abadi, Aditiawati, Yulisnawati H, and Fadil P. "Disorder of Sex Development, Mosaic Genetic Disorder 45x, 46xy: A Case Report." Bioscientia Medicina : Journal of Biomedicine and Translational Research 6, no. 2 (December 29, 2021): 1393–98. http://dx.doi.org/10.37275/bsm.v6i2.449.

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Background. Disorder of sex development (DSD) is a congenital disorder associated with interference in chromosomes, gonads, or sexes anatomically. Individual affected with DSD can be recognized since birth due to external genital ambiguity. Sexual chromosome DSD occurred because sexual chromosome numeric or structural disorder. Mosaic karyotype 45X/46XY is among the rare sexual chromosome DSD with incidence less than 1:15,000 live births. DSD individuals are susceptible to stigmatization. This can cause stress, negative emotion, and social isolation. Therefore, DSD individual management should be done as optimal as possible. Case Presentation: Twelve years old girl complaining a bump arose from anterior side of her genital resembles male genital since 4 years prior to admission without micturition and defecation complains. Patient has not experienced menarche. On external genital examination, we found the normal female external genital such as mons pubis, pubic hair, labia majora, labia minora, hymen, perineum, but without clitoris which in this case it is replaced by a glans of penis, arising from anterior commissure of labia majora area, with an urethral estuary. Before the management is done, patient underwent multidiscipline consultations and further examinations. Subsequently, it was approved that the joint conference formation consisting obstetric and gynecology, urologist, and pediatric endocrinologist to determine the optimal management for the patient. Conclusion: In this case, diagnosis was made with history taking, clinical examination, and supporting investigation such as ultrasound imaging and could be followed by biochemistry test, voiding cystourethrography or genitogram to determine next management. Counseling should be done in detail towards the family to know what action is best for the patient. Multidiscipline team was required to get the optimum result either in medical, ethical, or religious point of view. Surgery in this case was considered followed by long term therapy afterwards.

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Narayanan, Rajeshwari, Savitha Arunachalam, and Prahada Jagannathan. "A rare case of 5p-deletion in a child: Cri-du-chat syndrome." International Journal of Contemporary Pediatrics 9, no. 3 (February 23, 2022): 295. http://dx.doi.org/10.18203/2349-3291.ijcp20220459.

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The Cri-du-chat syndrome (CdCS; OMIM#123450) is a contiguous gene syndrome caused by a variable deletion of the short arm of the chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-births. The CdCS diagnosis is suspected in a child with cat like cry during infancy, facial dysmorphisms, hypotonia and delayed psychomotor development. Genotype-phenotype correlation studies shows clinical and cytogenetic variability in CdCS. High resolution G banding karyotyping with chromosomal microarray analysis (CMA) is the definitive method for a precise diagnosis of CdCS. There is no specific therapy for CdCS but early rehabilitative and educational interventions improve the prognosis and is crucial for social rehabilitation. Here the authors reported this case in view of its rarity and classical clinical features and molecular cytogenetic findings.

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Shashi, V., A. Veerapandiyan, K. Schoch, T. Kwapil, M. Keshavan, E. Ip, and S. Hooper. "Social skills and associated psychopathology in children with chromosome 22q11.2 deletion syndrome: implications for interventions." Journal of Intellectual Disability Research 56, no. 9 (August 31, 2011): 865–78. http://dx.doi.org/10.1111/j.1365-2788.2011.01477.x.

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Ely, Daniel, Michael Herman, Lawrence Ely, Linda Barrett, and Amy Milsted. "Sodium intake is increased by social stress and the Y chromosome and reduced by clonidine." American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 278, no. 2 (February 1, 2000): R407—R412. http://dx.doi.org/10.1152/ajpregu.2000.278.2.r407.

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The objectives were to determine 1) if female rats have higher Na intake than males and if social stress increases Na intake, 2) if the sympathetic nervous system (SNS) mediates the stress effects and the gender effect, and 3) if the Y chromosome (Yc) from a hypertensive father increases Na intake. Four rat strains ( n = 10/group) of both sexes were used: 1) Wistar Kyoto normotensive (WKY), 2) an F16 backcross with a Yc from a hypertensive father (SHR/y), 3) spontaneously hypertensive rat (SHR), and 4) an F16 backcross with a Yc from a normotensive father (SHR/a). Females showed greater baseline Na intake than males (hypertensive strains), intruder stress increased Na intake, and clonidine decreased Na intake, but not in WKY or SHR females. SHR/y males had higher baseline Na intake compared with WKY males. In conclusion, the higher Na intake in females during baseline and stress was partially mediated through the SNS in hypertensive strains and the SHR Yc was partially responsible for the increased Na intake in SHR/y and SHR males compared with WKY.

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Talati, Ardesheer, Kathryn Ponniah, Lisa J. Strug, Susan E. Hodge, Abby J. Fyer, and Myrna M. Weissman. "Panic Disorder, Social Anxiety Disorder, and a Possible Medical Syndrome Previously Linked to Chromosome 13." Biological Psychiatry 63, no. 6 (March 2008): 594–601. http://dx.doi.org/10.1016/j.biopsych.2007.07.021.

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Angkustsiri, Kathleen, Beth Goodlin-Jones, Lesley Deprey, Khyati Brahmbhatt, Susan Harris, and Tony J. Simon. "Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype?" Journal of Autism and Developmental Disorders 44, no. 4 (September 18, 2013): 739–46. http://dx.doi.org/10.1007/s10803-013-1920-x.

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Sablina, S. A., E. P. Tikhonova, and I. V. Belozertseva. "Behavior of Arvalis and Obscurus chromosomal forms of common vole (Microtus arvalis Pallas, 1779) males in the Partition test." Proceedings of the Zoological Institute RAS 321, no. 2 (June 26, 2017): 218–27. http://dx.doi.org/10.31610/trudyzin/2017.321.2.218.

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To compare the social and individual behaviors of common vole (Microtus arvalis Pallas, 1779) chromosomal forms («arvalis» and «obscurus») the Partition test was performed using different compositions of opponents (conspecific or heterospecific). Tests were performed in «arvalis» and «obscurus» males kept in animal facilities of the Zoological Institute (St. Petersburg, Russia). Laboratory populations originate from animals caught in the hybrid zone of these chromosome forms of voles (Vladimir region). Independent groups of animals were used for test with conspecific (N=28 for «arvalis» form; N=32 for «obscurus» form) and/or heterospecific (N=31 for both chromosomal forms) opponent. Test duration – 10 min. The behavior of animals (consequence and duration of behavioral elements) was registered by video films with special computer program «Ethograph» (ver. 2.07, RITEC, Russia). It was established that locomotor activity was greater in «obscurus» males. The level of anxiety estimated by amount of fecal boluses was higher in «arvalis» males. There were no differences in aggressive behavior of vole’s chromosomal forms, though both «arvalis» and «obscurus» were more aggressive towards individuals of heterospecific chromosomal form. The results of the present study confirm our previously published assumption about different behavioral strategies of common vole’s chromosomal forms: active-offensive for «obscurus» and passive avoidance (hiding behavior) for «arvalis».

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Nadeem, Muhammad, Naomi Galili, Muhammad Mumtaz, Peter Daya, Jason Cheskis, and Azra Raza. "Survival Analysis of Myelodysplastic Syndrome (MDS) Patients with Abnormal Karyotype - A Single Group Experience." Blood 120, no. 21 (November 16, 2012): 4952. http://dx.doi.org/10.1182/blood.v120.21.4952.4952.

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Abstract Abstract 4952 Introduction: MDS are a heterogeneous group of hematologic disorders associated with clonal evolution of abnormal erythroid, myeloid and megakaryocytic lineages. Risk of transformation to acute myeloid leukemia (AML) is determined by IPSS score. Common chromosomal aberrations include abnormalities of 5, 7, 8, 20 and Y. The present survival analysis is unique in that only one team of experts was involved in diagnosis and management of these patients over more than two decades. Material and Methods: Data of patients with abnormal karyotype either at first presentation or during the course of MDS was collected retroactively. FAB, IPSS and WHO classification were used. Dates of death were retrieved from social security death index. Statistical analyses were performed by using SPSS version 18. Results: Of 709 patients with abnormal karyotypes, 292(41%) were classified as RA (or refractory cytopenias), 80 (11%) RARS, 253(36%) RAEB, 45(6%) CMMoL and 34(5%) RAEB-t and 5 (1%) were unclassified. There were 271 (37%) females and 438 (63%) males with a median age of 67 yrs and 68 yrs respectively. The most frequent abnormalities affected chromosome 5 (279 or 40%); del5q/-5 with other changes was seen in 233 (83. 5 %) and isolated del5q/-5 in 79 (28. 3%). Chromosome 7 abnormalities were found in 181 (25. 5%) patients with 38 (21%) having isolated del7q/-7. Chromosomal 8 abnormality was seen in 174 (24. 5%) patients and 71 (41%) had isolated trisomy 8. Other frequently involved chromosomes were 20 and Y affecting 158 (22. 3%) and 55 (7. 8%) patients respectively. Complex karyotype with 3 or more chromosomal aberrations was seen in 201 (28. 3%) patients. Data on 700 patients was available for analysis when all chromosomal aberrations were considered according to various IPSS risk categories. The median survival was 73 months for low risk (74 patients), 33. 7 months for int-1 (303 patients), 13 months for int-2 (227 patients) and 11. 5 months for high risk (96 patients) (p=0. 000) groups. By cytogenetic abnormalities, the best median survival of 82 months (39/229) was seen in patients with del5q/-5 and low risk disease. Other risk groups with de5q/-5 showed 32, 11 and 9 months in int-1, int-2 and high risk disease respectively (p=<0. 05). The worst median survival was in patients with high risk disease and del7q/-7 (7. 4 months, 33/127) and in patients with complex karyotype (8 months, 55/197). Conclusion: Deletion 5q patients show the best median survival among low and int-1 risk groups. Our data show considerable improvement in median survival of high risk patients compared to the earlier reported survival (11. 5 versus 4 months) which probably reflects improvement due to the use of hypomethylating agents. This improvement in survival gains more significance when considering the fact that we have used the data of only those patients with chromosomal aberrations. Disclosures: No relevant conflicts of interest to declare.

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Journal articles on the topic 'Social chromosome'

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