نتایج جستجو برای: chromosome microdeletions
تعداد نتایج: 119710 فیلتر نتایج به سال:
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...
Fluorescence in situ hybridization (FISH) has facilitated the detection of microdeletions seen in PraderWilli/Angelman (PW/AS), Williams and DiGeorge syndromes. Out of 374 suspected cases tested at Jaslok Hospital in the past 5 years, 73 were positive, including 29 cases of Angelman, 16 of Prader-Willi, 24 of Williams and 4 of DiGeorge syndrome. Male preponderance was seen, mainly in Williams s...
A recently developed methodology-primed in situ labeling (PRINS)-can be used in place of fluorescence in situ hybridization (FISH) to diagnose microdeletions. To demonstrate the efficiency, sensitivity, and specificity of PRINS in the diagnosis of microdeletions, we studied groups of patients with Prader Willi/Angelman (PWS/AS) syndrome and DiGeorge/velocardiofacial syndrome (DGS/VCFS). Results...
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