Fragile X syndrome: clinical and cytogenetic studies
نویسندگان
چکیده
منابع مشابه
Fragile X syndrome. Clinical and cytogenetic studies.
Three families with the fragile X syndrome were studied with the aim to establish the most frequent clinical signs in the affected individuals and heterozygous women. The clinical evaluation, IQ level measurements and cytogenetic studies were performed in 40 subjects, 20 males and 20 females. The fragile X diagnosis was confirmed in all the male individuals with mental retardation. In the postp...
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Cytogenetic and clinical investigations were performed in 85 members of a large family, in which 18 males and seven females were mentally retarded. In the male patients the fragile site Xq27 was found in 6 to 44% (mean 22.5%) of peripheral blood lymphocytes. One non-retarded male expressed the cytogenetic abnormality in 6% of his cells. In 21 females the fra(X) was found in 3 to 28% (mean 8.7%)...
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Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A ...
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 1998
ISSN: 0004-282X
DOI: 10.1590/s0004-282x1998000100002