نتایج جستجو برای: chromosome microdeletions introduction
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During the last few years, microdeletions of the long arm of the Y chromosome, involving loci AZFa, AZFb, and AZFc, have been identified as a major cause of infertility, leading to the disruption of genes involved in spermatogenesis. These microdeletions are usually de novo mutations, but in six cases transmission from fertile fathers to infertile sons has been reported. In four cases, the tran...
Y chromosomal microdeletions at the azoospermia factor locus and chromosome abnormalities have been implicated as the major causes of idiopathic male infertility. A marker chromosome is a structurally abnormal chromosome in which no part can be identified by cytogenetics. In this study, to identify the origin of the marker chromosomes and to perform a genetic diagnosis of patients with azoosper...
Multiplex polymerase chain reaction (PCR) has been widely used to detect Y-chromosome microdeletions, which is one of the major causes of male infertility. Both the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) have recommended the use of sY84 and sY86 markers for the detection of azoospermia factor a (AZFa) microdeletion during DNA testing for m...
Microdeletions/duplications in the 22q11 region cause a variety of disorders, including DiGeorge syndrome (DGS; MIM 188400), Velocardiofacial syndrome (VCFS; MIM 192430) and Cat Eye syndrome (CES; MIM 115470). DGS and VCFS have a large clinical overlap and are both caused by deletions of a specific 1-3 Mb region on chromosome 22q11. The overall birth prevalence of 22q11 deletions appears to be ...
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, neonatally lethal developmental disorder of the lung with defining histologic abnormalities typically associated with multiple congenital anomalies (MCA). Using array CGH analysis, we have identified six overlapping microdeletions encompassing the FOX transcription factor gene cluster in chromosome 16q24.1q24...
The objective of the present study was to determine the frequency of somatic chromosomal anomalies and Y chromosomal microdeletions (azoospermia factor genes, AZF) in infertile males who seek assisted reproduction. These studies are very important because the assisted reproduction techniques (mainly intracytoplasmic sperm injection) bypass the natural selection process and some classical chromo...
BACKGROUND Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features. METHODOLOGY/PRINCIPAL FINDINGS We...
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