X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation
نویسندگان
چکیده
منابع مشابه
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...
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 کاملX Chromosome Inactivation in Opioid Addicted Women
Introduction: X chromosome inactivation (XCI) is a process during which one of the two X chromosomes in female human is silenced leading to equal gene expression with males who have only one X chromosome. Here we have investigated XCI ratio in females with opioid addiction to see whether XCI skewness in women could be a risk factor for opioid addiction. Methods: 30 adult females meeting DS...
متن کاملX-linked mental retardation with marfanoid habitus.
Here we report on two pairs of mildly to moderately mentally retarded brothers with marfanoid habitus and similar craniofacial changes. They had a long and narrow face, small mandible, high-arched palate, and hypernasal voice, as previously reported by Lujan et al (Am J Med Genet 17:311-322, 1984) in four mentally retarded males of a large kindred. The present data suggest the existence of a sp...
متن کاملCopy number changes on the X chromosome in women with and without highly skewed X-chromosome inactivation.
AIM To test the hypothesis that microdeletions or microduplications below the resolution of a standard karyotype may be a significant cause of highly skewed X-inactivation (HSXI) in women without a cytogenetically detected X-chromosome anomaly. METHODS Cases were women with HSXI, defined as ≥85% of cells in a blood sample with the same active allele at the HUMARA locus. The skewing in control...
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ژورنال
عنوان ژورنال: BMC Genomics
سال: 2007
ISSN: 1471-2164
DOI: 10.1186/1471-2164-8-443