Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages

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چکیده

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Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages

INTRODUCTION Mental retardation (MR) has heterogeneous aetiology mostly with genetic causes. Chromosomal aberrations are one of the most common causes of MR. Reports on chromosome abnormality rate among consanguineous families are sparse. In order to identify the chromosome abnormality rate in idiopathic mental retardation from consanguineous marriages, a total of 322 Iranian families with posi...

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Subtelomeric 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...

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Molecular study of a consanguineous family with autosomal recessive mental retardation and speech disorder

Mental retardation (MR) is one of the most frequently found major genetic disorders around the world, affecting 1-3% of the people in the general population. The recent advancement in molecular biology and cytogenetic study has made possible the identification of new genes for a variety of genetic disorders including autosomal recessive MR. Recessive genetic disorders are common in Pakistan due...

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Familial X-linked mental retardation with an X chromosome abnormality and macro-orchidism.

An X-linked pattern of transmission observed in four families with familial mental retardation in several generations was associated with a probable secondary constriction at the distal end of the q arms of the X chromosome. Twenty retarded males and no retarded females were observed. All available live retarded males and most of their normal mothers were found to have the abnormal X chromosome...

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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...

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ژورنال

عنوان ژورنال: Archives of Medical Science

سال: 2011

ISSN: 1734-1922

DOI: 10.5114/aoms.2011.22085