Gotowe bibliografie tematyczne / Mosaic genetic anomalies

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Gotowa bibliografia na temat „Mosaic genetic anomalies”

Autor: Grafiati

Data publikacji: 14 grudnia 2024

Data aktualizacji: 31 lipca 2025

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Artykuły w czasopismach na temat "Mosaic genetic anomalies"

Xing, Huan-xia, Peng-bin Li, Li-min Cui, Jian-ye Jiang, Ning-ning Hu, and Xiao-bin Zhang. "Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC)." BioMed Research International 2021 (July 2, 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

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Kristesashvili, Jenaro, and Nino Sigua. "Chromosomal Anomalies in Couples with Recurrent Pregnancy Loss." Medical Times 1, no. 1 (2023): 36–40. https://doi.org/10.71419/mtggrc.2023.6.

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This study explores the landscape of chromosomal anomalies in couples with recurrent pregnancy loss (RPL) who have not previously delivered abnormal fetuses. From 2014 to 2021, we analyzed 122 couples who had experienced more than two first-trimester miscarriages. After excluding common causes of RPL, we conducted a cytogenetic analysis using G-banding. The results revealed chromosomal anomalies in 8.2% of cases, including balanced reciprocal translocations in 4 men and two women, Robertsonian translocations in 2 men, and subfertility in 3 men. Additionally, one woman had a pericentric inversi

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Vinkšel, M., M. Volk, B. Peterlin, and L. Lovrecic. "A systematic clinical review of prenatally diagnosed tetrasomy 9p." Balkan Journal of Medical Genetics 22, no. 1 (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, isochromosom

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Hong, You Mi, Soo Hyun Kim, Hee Jin Park, et al. "Prenatal Ultrasound Findings and Chromosomal Outcomes of Pregnancies with Mosaic Embryo Transfer." Diagnostics 14, no. 24 (2024): 2795. https://doi.org/10.3390/diagnostics14242795.

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Background: To investigate prenatal ultrasound findings and the chromosomal outcomes of mosaic embryo transfer. Methods: This retrospective study was conducted on pregnant women who underwent mosaic embryo transfer following blastocyst-stage preimplantation genetic testing for aneuploidy (PGT-A) at CHA Gangnam Medical Center from January 2021 to July 2024. Trophectoderm biopsy specimens were collected using standard protocols, and next-generation sequencing profiles were defined as mosaics when displaying copy number counts in the 20–80% range. The results of the PGT-A, the amniocentesis resul

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Milicevic, Srboljub, Jasmina Tadic, Stasa Krasic, and Stevan Repac. "Autopsy findings in a fetus with monosomy 20 mosaicism." Srpski arhiv za celokupno lekarstvo, no. 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

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Vorsanova, S. G., I. V. Solovyev, O. S. Kurinnaya, et al. "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, no. 2 (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 cytoge

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Thu-Ta, Flora, Dalvir Singh Bajwa, Suzanne Leech, Anna Dubois, and Brian Wilson. "PA33 Mosaic KRAS mutation associated with epidermal naevus and somatic limb overgrowth." British Journal of Dermatology 191, Supplement_1 (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 mid

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Kart, Kenan, and Erol Toy. "General Anesthesia Management of a Case with Trisomy 8 Mosaic Syndrome: A Rare Chromosomal Anomaly and Anesthesia Difficulties." Journal of Anesthesiology and Reanimation Specialists' Society 33, no. 1 (2025): 39–41. https://doi.org/10.54875/jarss.2025.48030.

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Trisomy 8 Mosaic Syndrome (T8MS) is a rare genetic disease. Patients with congenital anomalies carry some risks in terms of anesthesia. Although the anesthesia difficulties of patients with congenital anomalies are well described in the literature, studies or case reports presenting patients with trisomy 8 are quite limited. The case presented here is a 6-year-old boy weighing 22 kg. Since the patient had some multiple abnormalities such as retromicrognathia, high palate and short neck, the operating table was prepared in accordance with the hospital’s Difficult Airway Protocol on the day of s

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Leroij, Olivier, Lennart Van der Veeken, Bettina Blaumeiser, and 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, no. 3 (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

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Tidrenczel, Zsolt, Erika P. Tardy, Edina Sarkadi, Judit Simon, Artúr Beke, and János Demeter. "Praenatalisan diagnosztizált Pallister–Killian-szindróma esete." Orvosi Hetilap 159, no. 21 (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 labo

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Rozprawy doktorskie na temat "Mosaic genetic anomalies"

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

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Części książek na temat "Mosaic genetic anomalies"

Clark, Robin D., and Cynthia J. Curry. "Diaphragmatic Hernia." In Genetic Consultations in the Newborn, edited by Robin D. Clark and Cynthia J. Curry. 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 dis

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