Fragile site X chromosomes in mentally retarded boys
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چکیده
منابع مشابه
Fragile site X chromosomes in mentally retarded boys.
The fragile X syndrome is a common X-linked mental retardation and autism, affecting females as well as males. The fragile site X chromosomes were studied in a series of 153 mentally retarded boys of unknown etiology to determine the frequency of fragile X syndrome, and to assess the feasibility of making a clinical diagnosis of the fragile X syndrome in young boys before cytogenetic results we...
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Fragile X syndrome is the most frequent cause of inherited mental retardation. The phenotype in this syndrome is quite variable and less conspicuous in younger patients, making clinical diagnosis difficult and thus making molecular diagnosis necessary. The use of clinical checklists in mentally retarded individuals can help selecting patients to be given priority in the molecular investigation ...
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A mentally retarded male patient with a structurally abnormal X chromosome is reported (karyotype 46, dir dup (X)(p11.2 leads to p21.2)Y). In the normal mother a similar X chromosome duplication was found, which was preferentially inactivated. Xg blood groups were studied in the family. The findings indicated that recombination took place at maternal meiosis, as both karyotypically normal sons ...
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ژورنال
عنوان ژورنال: Journal of Korean Medical Science
سال: 1993
ISSN: 1011-8934,1598-6357
DOI: 10.3346/jkms.1993.8.3.192