Literatura académica sobre el tema "Mosaic genetic anomalies"
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Artículos de revistas sobre el tema "Mosaic genetic anomalies"
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Xing, Huan-xia, Peng-bin Li, Li-min Cui, Jian-ye Jiang, Ning-ning Hu y Xiao-bin Zhang. "Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC)". BioMed Research International 2021 (2 de julio de 2021): 1–8. http://dx.doi.org/10.1155/2021/6258527.
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Small supernumerary marker chromosomes (sSMCs) are a group of rare chromosomal anomalies, which pose challenges in the clinical practice of prenatal diagnosis and genetic counseling. This study enrolled an extended family with an underage male patient displaying infantile seizures, intellectual disability, and retarded speech and psychomotor function. A series of multiplatform genetic detections was conducted to explore the diagnostic variation. Whole exome sequencing (WES) and chromosomal microarray analysis (CMA) indicated a mosaic sSMC derived from the pericentromeric region of chromosome 8 in the patient, which was confirmed using cytogenetic methods. The proband and his mother, who carried this mosaic variant, exhibited strong phenotypic variability. We also ruled out the pathogenicity of a KDM5C variant by extended validation. Our results emphasized the capacity of WES to detect mosaic SMCs and the importance of mosaic ratios in the appearance and severity of symptomatic phenotypes.
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Vinkšel, M., M. Volk, B. Peterlin y L. Lovrecic. "A systematic clinical review of prenatally diagnosed tetrasomy 9p". Balkan Journal of Medical Genetics 22, n.º 1 (28 de agosto de 2019): 11–20. http://dx.doi.org/10.2478/bjmg-2019-0012.
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AbstractTetrasomy 9p was first described in 1973 and approximately 68 cases with a variable phenotype have been reported to date with 22 of them being detected prenatally. The objective of this study was to review prenatally-reported cases of tetrasomy 9p thus far and to identify ultrasound phenotypes that may be suggestive of this specific syndrome. A PubMed database search was done in February 2018 without any restriction of publication date orjournals, with the use of the following keywords: tetrasomy 9p, tetrasomy 9p prenatal, mosaic tetrasomy 9p, mosaic tetrasomy 9p prenatal, isochromosome 9p, duplication 9p prenatal, trisomy 9p prenatal. Reported cases were included if the clinical presentation and diagnostic approach of each case was clearly described. The most common characteristics of prenatally-detected tetrasomy 9p are intrauterine growth retardation (IUGR, 57.0%), central nervous system (CNS) abnormalities (59.0%), skeletal anomalies (29.0%), genitourinary and renal anomalies (29.0%) and cardiac defects (29.0%). The phenotypic spectrum of tetrasomy 9p is rather unspecific as these findings are commonly associated with other chromosome anomalies, as well as microdeletion/microduplication or monogenic syndromes. The combination of early fetal morphology and diagnostic genetic testing enables a definite tetrasomy 9p diagnosis and effective further pregnancy management.
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Milicevic, Srboljub, Jasmina Tadic, Stasa Krasic y Stevan Repac. "Autopsy findings in a fetus with monosomy 20 mosaicism". Srpski arhiv za celokupno lekarstvo, n.º 00 (2024): 17. http://dx.doi.org/10.2298/sarh231112017m.
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Introduction. Mosaic monosomy 20 is a rare chromosomal aberration, without characteristic clinical features. We present a case of a fetus with monosomy 20 mosaicism revealed after prenatal ultrasound detection of anhydramnios and multiple anomalies. Case outline. The second pregnancy of a 33 years old woman, was terminated at 23rd gestational week, because of the multiple fetal anomalies and anhydramnios, detected by ultrasound. The autopsy of a female fetus revealed multiple congenital anomalies: ventriculomegaly, bilateral choroid plexus cysts, perivascular gliosis in periventricular region of cerebri, hydropericardium, severe cardiomegaly, severe myocardial hypertrophy, hydrothorax, glandular/canalicular stage of fetal lung development, bilateral renal and ureter agenesis (Potter syndrome), bladder aplasia, agenesis of the uterus, fallopian tubes and proximal vagina and valgus deformity of left foot (pes valgus). Fetal growth was adequate for gestational age with no craniofacial dysmorphy or radiographically visible anomalies of the skeleton, without signs of infection. The umbilical cord was too much length for gestational age-48cm. Analysis of fetal karyotype from fetal blood sampling revealed monosomy of chromosome 20 in 10% of analyzed cells in metaphase. Conclusion. Revealing the genetic basis of fetal anomalies is at outmost importance not only for further evaluation of pregnancy, but also for proper genetic informing of patients.
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Vorsanova, S. G., I. V. Solovyev, O. S. Kurinnaya, V. S. Kravets, A. D. Kolotii, I. A. Demidova, V. O. Sharonin, Yu B. Yurov y I. Yu Yurov. "The Y chromosome disomy syndrome (47, XYY) in children with mental retardation, deviations of sex development and different genome anomalies: molecular cytogenetic studies". Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 65, n.º 2 (15 de mayo de 2020): 40–48. http://dx.doi.org/10.21508/1027-4065-2020-65-2-40-48.
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The article present the results of retrospectively analyzed children (4424 boys) with mental and psychomotor retardation, congenital malformations and/or developmental micro anomalies. 23 children had various forms of Y chromosome dysomy syndrome. The frequency of this syndrome in the studied cohort was 0.52%; and in this connection the authors discussed the role of Y-chromosome in the origin of mental retardation. Besides, the chromosome instability in sex and somatic cells is supposed to be a common mechanism of different chromosomal anomalies. The authors discussed the possibility of cytogenetic and molecular cytogenetic diagnosis, and also clinical polymorphism of the syndrome. The authors established the necessity of molecular cytogenetic technologies in the diagnosis of different forms of the syndrome, including mosaic forms and isodicentric chromosomes-connected forms. The severity of clinical symptoms doesn’t depend on presence of regular or mosaic forms of the syndrome. The study assumes a possible connection of clinical polymorphism with mosaisism, associated with the presence of abnormal cells (cell lines) in different tissues, together with the role of Y chromosome in the origin of mental retardation in children with Y- chromosome disomy syndrome and other chromosomal anomalies. The authors underline the necessity of molecular cytogenetic diagnosis of different forms of the syndrome for correct medical and genetic consultation.
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Thu-Ta, Flora, Dalvir Singh Bajwa, Suzanne Leech, Anna Dubois y Brian Wilson. "PA33 Mosaic KRAS mutation associated with epidermal naevus and somatic limb overgrowth". British Journal of Dermatology 191, Supplement_1 (28 de junio de 2024): i137. http://dx.doi.org/10.1093/bjd/ljae090.288.
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Abstract Mosaic KRAS variants are recognized to cause a range of features including somatic overgrowth, lymphatic and vascular malformations and other anomalies. We present a child with a mosaic variant in this gene and discuss the phenotype of this condition. A 2-year-old boy was noted at birth to have an extensive keratinocytic epidermal naevus and swelling of the left lower limb. The child was born after an uncomplicated pregnancy to unrelated parents. No anomalies had been detected prenatally. The naevus was large, affecting the left side of the body with a central demarcation down the midline of his chest to the left groin. The naevus continued down the volar aspect of the left arm onto the palm of the hand. The left lower limb was hypertrophic throughout, with nonpitting oedema. The perfusion and movement of the limb appeared normal. An infantile haemangioma was noted on the lower back, and later a deeper haemangioma of the anterior neck; neither required treatment. The left testis was undescended initially, with subsequent overgrowth of the skin of the penis and scrotum. Investigations soon after birth revealed a cystic dysplastic left kidney. A magnetic resonance imaging scan of the brain was normal. Initial genetic analysis was performed on blood. Diagnostic testing for a panel of genes associated with segmental overgrowth (R110) detected no pathogenic variant. The mosaic skin disorders deep sequencing panel (R327) showed no pathogenic variant using DNA extracted from blood. This panel was subsequently repeated on DNA extracted from skin, and a mosaic pathogenic KRAS variant c.35G>A, p.Gly12Asp was identified in 30% of next-generation sequencing reads. Mosaic RASopathies affect genes involved in the RAS–mitogen-activated protein kinase signalling pathway. Phenotypes of mosaic RASopathies are often distinct from their germline counterparts. The c.35G>A variant seen in our patient is widely reported, and leads to constitutive overactivation and increased signal transduction in downstream pathways. Epidermal naevi, both keratinocytic and sebaceous, are a common finding resulting from mosaic RAS mutations. Good developmental progress was made; milestones were generally met and although the leg remained enlarged due to lymphatic overgrowth, he was able to walk. No neurological symptoms have been noted, and the eyes have been checked with no anomalies found. The kidneys will be kept under review, as renal tumours have been reported in patients with mosaic KRAS variants. Our patient highlights aspects of the phenotype of a mosaic KRAS variant and adds to the growing knowledge of these conditions.
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Leroij, Olivier, Lennart Van der Veeken, Bettina Blaumeiser y Katrien Janssens. "Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication". Reproductive Medicine 2, n.º 3 (9 de julio de 2021): 118–24. http://dx.doi.org/10.3390/reprodmed2030012.
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We present a case of a fetus with cranial abnormalities typical of open spina bifida but with an intact spine shown on both ultrasound and fetal MRI. Expert ultrasound examination revealed a very small tract between the spine and the skin, and a postmortem examination confirmed the diagnosis of a dorsal dermal sinus. Genetic analysis found a mosaic 3q23q27 duplication in the form of a marker chromosome. This case emphasizes that meticulous prenatal ultrasound examination has the potential to diagnose even closed subtypes of neural tube defects. Furthermore, with cerebral anomalies suggesting a spina bifida, other imaging techniques together with genetic tests and measurement of alpha-fetoprotein in the amniotic fluid should be performed.
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Tidrenczel, Zsolt, Erika P. Tardy, Edina Sarkadi, Judit Simon, Artúr Beke y János Demeter. "Praenatalisan diagnosztizált Pallister–Killian-szindróma esete". Orvosi Hetilap 159, n.º 21 (mayo de 2018): 847–52. http://dx.doi.org/10.1556/650.2018.31015.
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Abstract: Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder that is caused by the mosaic presence of a supernumerary marker chromosome, isochromosome 12p. The syndrome is a polydysmorphic condition characterized by mental retardation, craniofacial dysmorphism, hypotonia, seizures, epilepsy and certain organic malformations (diaphragmatic hernia, congenital heart disease). Prenatal diagnosis is challenging due to the mosaic tissue-specific distribution of the chromosomal disorder and highly variable phenotype. Prenatal diagnosis is often accidental, however, appropriate laboratory techniques based on the second trimester ultrasound anomalies provide accurate prenatal diagnosis. We report a case of a 36-year-old primipara with second trimester ultrasound markers (polyhydramnion, ventriculomegaly, rhizomelic micromelia, abnormal facial profile). The patient underwent amniocentesis, the conventional karyotyping revealed a supernumerary chromosome in nearly 50 percent of amniocytes. FISH and targeted multicolour FISH probes verified mosaic tetrasomy of the short arm of chromosome 12 of the fetus. Fetopathological examinations and analysis of fetal tissues and blood confirmed the prenatal diagnosis. To our knowledge, this is the first reported case of prenatally diagnosed Pallister–Killian syndrome in Hungary. Orv Hetil. 2018; 159(21): 847–852.
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Stephens, Carol M., Andreea M. Pavel, Sean R. Mathieson, Niamh McSweeney, Brian McNamara, Michael Moore y Geraldine B. Boylan. "Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)". HRB Open Research 5 (18 de febrero de 2022): 14. http://dx.doi.org/10.12688/hrbopenres.13493.1.
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Pallister Killian Syndrome (PKS) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. The syndrome is characterised by typical craniofacial dysmorphism, congenital anomalies and intellectual disability. Epilepsy is a known complication, with onset usually occurring in early childhood and characterised most commonly by spasms and myoclonic seizures. To the best of our knowledge, there have been no cases describing the early neonatal EEG in PKS and electrographic seizures, to date. Here, we report two cases of PKS presenting in the neonatal period with distinctive EEG features and seizures.
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Schneeweiss, Michelle Robyn, Breanne Dale y Resham Ejaz. "Diagnosis and clinical presentation of two individuals with a rareTCF20pathogenic variant". BMJ Case Reports 15, n.º 12 (diciembre de 2022): e248995. http://dx.doi.org/10.1136/bcr-2022-248995.
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TCF20-associated neurodevelopmental disorder (TAND) is a rare and phenotypically variable genetic condition. Common features include intellectual disability, neurobehavioural concerns, postnatal tall stature and hypotonia.Two unrelated early adolescent males were referred to genetics for assessment of developmental delay. The first male of Caucasian descent had a history of autism spectrum disorder (ASD), mitral valve prolapse and subtle craniofacial dysmorphisms. The second male of Somali descent had a history of intellectual disability, thick corpus callosum and ASD. Whole-exome sequencing revealed a pathogenic variant inTCF20in both individuals. Further testing revealed that the former individual’s mother was mosaic for theTCF20 pathogenic variant.We report two individuals withTCF20pathogenic variants presenting with unique findings, including thick corpus callosum, family history of mosaicism and cardiac anomalies. These examples expand the TAND phenotype, describe associated dysmorphism in a minority group and highlight the importance of rare disease research.
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Eid, Maha M., Ola M. Eid, Sawsan Abdel-Hadi, Nehal Hassib, Abdelrahman Madian, Hanan H. Afifi y Ghada M. H. Abdel-Salam. "Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients". Journal of Pediatric Genetics 09, n.º 03 (21 de noviembre de 2019): 207–10. http://dx.doi.org/10.1055/s-0039-3400489.
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AbstractPallister–Killian syndrome (PKS) is a rare sporadic genetic disorder caused by a mosaic tetrasomy of chromosome 12p, which mainly manifests with craniofacial dysmorphism, intellectual disability (ID), auditory disturbance, epilepsy, and a variety of congenital malformations. The diagnosis of PKS can be complicated due to the phenotypic variation, and an overlap with other syndromes makes the molecular cytogenetic test necessary for a correct diagnosis. We identified two unrelated patients with typical facial features of PKS, including bitemporal alopecia, hypertelorism, and abnormal ears. Furthermore, the two patients had pigmentary skin anomalies, broad and short hands and fingers, and hypotonia. However, they differed in the degree of ID and ophthalmological findings. Patient 1 showed profound ID and poor macular function, whereas patient 2 had moderate ID and normal fundus. Mosaic tetrasomy of chromosome 12p was found in 40 and 25% of the cells of patients 1 and 2, respectively, by fluorescent in situ hybridization of cultured skin fibroblasts. The higher percentage of mosaic cells with tetrasomy 12p found in patient 1 may explain the severe phenotype. This report expands the clinical manifestations of PKS and highlights the variable expressivity of clinical features in relation to the cytogenetics findings.
Tesis sobre el tema "Mosaic genetic anomalies"
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Engel, Camille. "Description phénotypique de formes rares de trouble du développement intellectuel et caractérisation des mécanismes moléculaires impliqués". Electronic Thesis or Diss., Bourgogne Franche-Comté, 2024. http://www.theses.fr/2024UBFCE006.
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L’avènement des nouvelles techniques de séquençage a permis d’augmenter de façon considérable le taux diagnostique des troubles du développement intellectuel (TDI) et plus de 2000 gènes impliqués sont aujourd’hui connus. Malgré ces progrès considérables, l’interprétation des variants identifiés par les techniques de séquençage reste parfois difficile et l’histoire naturelle des TDI nouvellement décrits est souvent méconnue. Notre travail a consisté à étudier quatre formes de TDI rares de modes de transmissionvariés sur les plans clinique et génétique afin de mieux comprendre ces affections et les mécanismes qui les sous-tendent. Nous avons d’une part précisé les tableaux cliniques associés aux variations de BRAT1, CNOT3 et MTOR et avons recherché l’existence d’éventuelles corrélations phénotype-génotype pour les variations de ces gènes. D’autre part, nous avons participé à la mise en place d’un test fonctionnel permettant de reclasser les variants de signification incertaine de PQBP1The advent of new sequencing techniques has dramatically increased the diagnostic rate of intellectual disability (ID), and more than 2,000 genes are currently known to be involved. Despite these considerable progresses, interpreting the variants identified by sequencing methods remains challenging, and the natural history of newly described ID is often poorly understood. To better understand these disorders and their underlying mechanisms, we have studied four rare forms of ID with various inheritance patterns from both clinical and genetic perspectives. On one hand, we defined the clinical pictures associated with variations in BRAT1, CNOT3 and MTOR, and we investigated the existence of any phenotype-genotype correlations. On the other hand, we contributed to the design of a functional test to reclassify PQBP1 variants of uncertain significance
Capítulos de libros sobre el tema "Mosaic genetic anomalies"
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Clark, Robin D. y Cynthia J. Curry. "Diaphragmatic Hernia". En Genetic Consultations in the Newborn, editado por Robin D. Clark y Cynthia J. Curry, 147–52. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199990993.003.0021.
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This chapter reviews background information about the incidence, risk factors, genetics, family history, recurrence risk, and epidemiology of isolated and syndromic diaphragmatic hernia. The chapter reviews the typical multifactorial inheritance pattern of isolated sporadic diaphragmatic hernia and its low recurrence risk, which is distinct from more complex single gene disorders. The discussion on the differential diagnosis of diaphragmatic hernia summarizes other intrathoracic disorders that can give a similar radiographic appearance. The common genetic causes of diaphragmatic hernia are discussed including chromosome anomalies (aneuploidy, mosaic tetrasomy 12p, recurrent copy number variants), and Mendelian disorders that include malformations in other organ systems and overgrowth conditions. The chapter gives recommendations for evaluation and management. A clinical case presentation features a large for gestational age infant with diaphragmatic hernia and bitemporal alopecia caused by Pallister–Killian syndrome.