Molecular characterization of X chromosome fragility in idiopathic mental retardation
نویسندگان
چکیده
منابع مشابه
Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods.
AIM To identify cryptic subtelomeric rearrangement, a possible cause of idiopathic mental retardation by means of multiprobe telomere fluorescent in situ hybridization (T-FISH). METHODS Hundred patients (median age 3.0 years) with mental retardation and dysmorphic features were screened using specific T-FISH probes. Multiplex ligation-dependent probe amplification and comparative genomic hybr...
متن کاملX-linked mental retardation.
A survey of the mentally retarded children with an IQ between 30 and 55 born in a 10-year period (1955-64) and now of school age was carried out in New South Wales. The number of propositi who had a similarly affected sib of the same sex was ascertained; 58 boys had a similarly affected brother(s) and 22 girls had a similarly affected sister(s). It is suggested that the excess of affected broth...
متن کاملMolecular diagnosis and genetic counseling for fragile X mental retardation.
The fragile X syndrome is the most frequent cause of inherited mental retardation. It is caused by a dynamic mutation: the progressive expansion of polymorphic (CGG)n trinucleotide repeats located in the promoter region of the FMRI gene at Xq27.3. The cloning of the FMRI gene and the elucidation of the molecular basis of the fragile X syndrome is of great importance for the diagnosis and unders...
متن کامل"Idiopathic" mental retardation and new chromosomal abnormalities
Mental retardation is a heterogeneous condition, affecting 1-3% of general population. In the last few years, several emerging clinical entities have been described, due to the advent of newest genetic techniques, such as array Comparative Genomic Hybridization. The detection of cryptic microdeletion/microduplication abnormalities has allowed genotype-phenotype correlations, delineating recogni...
متن کاملStudy of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.
Cryptic subtelomeric chromosome anomalies have been recognized as a significant cause of dysmorphology and mental retardation. To determine whether the clinical cytogenetics laboratory should screen routinely for these aberrations, we have tested 250 patients with idiopathic mental retardation/developmental delay, either isolated (53) or associated with dysmorphic features and/or malformations ...
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ژورنال
عنوان ژورنال: Egyptian Journal of Medical Human Genetics
سال: 2016
ISSN: 1110-8630
DOI: 10.1016/j.ejmhg.2015.11.001