Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation
نویسندگان
چکیده
منابع مشابه
A survey of patients with mental retardation of unknown origin
Introduction: Fragile X syndrome (FXS) is one of the most prevalent genetic causes of developmental disability, representing the most frequent form of inherited severe cognitive deficit. The present study was undertaken to investigate FXS and its prevalence in moderate mentally retarded people in patients. Materials and methods: Nineteen people with moderate mental retardation (MR) who wer...
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 کاملGenomic imbalances in mental retardation.
INTRODUCTION It has been estimated that cytogenetically visible rearrangements are present in approximately 1% of newborns. These chromosomal changes can cause a wide range of deleterious developmental effects, including mental retardation (MR). It is assumed that many other cases exist where the cause is a submicroscopic deletion or duplication. To facilitate the detection of such cases, diffe...
متن کاملBehavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications
We describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low-copy repeats (LCR) in this region and one patient has an atypical rearrangement. Two of the six patients with abnormalities in the region between LCR22 D-E have hearing loss, which has previously been reported only once ...
متن کاملdetection of volatile compounds of medicinal plants with some nano-sorbents using modified or new methodologies and investigation of antioxidant activity of their methanolic extracts
in this work, a novel and fast method for direct analysis of volatile compounds (davc) of medicinal plants has been developed by holding a filament from different parts of a plant in the gc injection port. the extraction and analysis of volatile components of a small amount of plant were carried out in one-step without any sample preparation. after optimization of temperature, extraction time a...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2006
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201661