X-linked mental retardation associated with macro-orchidism.
نویسندگان
چکیده
Two families are described with an X-linked form of mental retardation in whom the affected males were found to have bilateral enlargement of the testes. No conclusive evidence of any endocrinological disturbance was found.
منابع مشابه
A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21.
A family with X linked inheritance of mental retardation (XLMR) is presented. There are 10 mentally retarded males and two affected females in two generations. There are four obligatory carriers, one of whom is described as "slow". Most affected males show macrocephaly and macro-orchidism, which are typical signs of the fragile X syndrome, but have been tested cytogenetically and by analysis of...
متن کاملFamilial 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 کاملگزارش یک مورد سندرم ایکس شکننده همراه با ناهنجاری انگشتان
Fragile X Syndrome, the most common cause of inherited mental retardation, results from mutation in fragile X mental retardation gene (FMR1) on long arm of X chromosome, Xq27.3. Clinical features include moderate to severe mental retardation without neurologic deficit, long face, large ears, prominent jaw, macro-orchidism, attention deficit, behavior di...
متن کاملNeurological findings in patients with the fragile-X syndrome.
We report two brothers with previously unexplained mental retardation and seizures who had dysmorphic facial features, macro-orchidism, and a fragile site at the X chromosome. This recently described syndrome is the second most common chromosome aberration associated with mental retardation after Down's syndrome. In order to determine the prevalence of seizures and the frequency of specific neu...
متن کاملFragile 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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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 12 4 شماره
صفحات -
تاریخ انتشار 1975