How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation
نویسندگان
چکیده
منابع مشابه
How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation.
EDITOR—The genetic causes of mental retardation are still largely unknown so that about 34% of cases of severe to moderate and 80% of mild mental retardation remain unresolved. 2 Consequently, genetic counselling is diYcult in these cases. Chromosomal rearrangements are still the most frequent cause of mental retardation and cytogenetic analysis at 400-550 band resolution cannot detect rearrang...
متن کاملHow can Alzheimer's Patients be Helped?
پرستاری از بیمار مبتلا به بیماری آلزایمر چندان ساده نیست. حتی اگر از این امر که اختلال رفتاری فرد نشانه ای از بیماری اوست، آگاه باشید، اکثر مواقع نمی دانید که چگونه باید با او رفتار کنید. در این مقاله روشهای مناسبی ارائه گردیده تا خانواده بیمار بتواند با ۱۰ اختلال رفتاری شایع در بیماران مبتلا بدون احساس ناامیدی و خشم سازگاری یابند.
متن کاملSubtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies.
Subtelomeric rearrangements are an important cause of both sporadic and familial idiopathic mental retardation (MR) and/or congenital malformation syndromes. We report on a cohort of 107 children with idiopathic MR and normal karyotype 450-550 band level by GTG banding screened for subtelomeric rearrangements by multiprobe fluorescence in situ hybridization (FISH). In these cases, five patients...
متن کاملSubtelomeric rearrangements detected in patients with idiopathic mental retardation.
A screening for submicroscopic rearrangements was performed in 111 patients with idiopathic mental retardation (MR) using fluorescence in situ hybridization (FISH) probes from the subtelomeric regions of all chromosome arms. Ten cryptic rearrangements were found (9%): five de novo deletions; one unbalanced de novo translocation; three unbalanced inherited translocations; and one unbalanced reco...
متن کاملChromosomal Abnormalities in Mental Retardation: Indian Experience
At a Tertiary Genetic Centre, children with mental retardation (MR) (also referred as intellectual disability) and associated developmental disabilities were investigated for genetic diagnosis which is important in prevention and genetic counseling while offering the risk of recurrence to the family. A prospective and retrospective cytogenetic study was conducted on 1760 MR cases for chromosoma...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2001
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmg.38.1.e1