منابع مشابه
Prenatal sex determination in suspicious cases of X-linked recessive diseases by the amelogenin gene
Objective(s):To determine the fetal discernment in suspected cases of sex linked recessive disease in the first trimester of pregnancy. Materials and Methods: After collection of 100 Chorionic Villi samples, the DNAs were extracted and baby gender was determined. Meanwhile, after increasing the sensitivity, the system was able to detect the sex of each cell which was obtained by biopsy. Resul...
متن کاملPhenotypic heterogeneity in females with X-linked Alport syndrome
AIMS X-linked Alport syndrome (AS) is a monogenic inherited disorder of type IV collagen, a structural protein in the kidney and cochlea. Males typically exhibit a severe phenotype with end-stage renal disease (ESRD) and/or deafness by early adulthood. Because of the presence of two X chromosomes, females often have a less severe phenotype and hence the diagnosis of AS is often not considered. ...
متن کاملAge-dependent penetrance among females with X-linked adrenoleukodystrophy.
1 Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands 2 Department of Paediatric Neurology/Emma Children’s Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands 3 INSERM U698, Hôpital Bichat, Paris, France 4 Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Centre, Universi...
متن کاملX-linked inheritance in females with chronic granulomatous disease.
Chronic granulomatous disease in males is familial and its transmission is is usually clearly x-linked. The mode of inheritance in females with the syndrome is unknown and the carrier state difficult to identify. Defective polymorphonuclear leukocyte bactericidal activity in this disease is associated with an absence of the respiratory burst generated in stimulated phagocytes and may be detecte...
متن کاملX chromosome inactivation and the diagnosis of X linked disease in females.
In studies of female patients with suspected deficiency of the E1 alpha subunit of the pyruvate dehydrogenase complex, we have found that X inactivation ratios of 80:20 or greater occur at sufficient frequency in cultured fibroblasts to make exclusion of the diagnosis impossible in about 25% of cases. Pyruvate dehydrogenase E1 alpha subunit deficiency is an X linked inborn error of metabolism w...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2020
ISSN: 1098-3600,1530-0366
DOI: 10.1038/s41436-020-0779-4