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DIAGNOSIS OF THE FRAGILE X SYNDROME (MARTIN‐BELL SYNDROME). CLINICAL FINDINGS IN 27 MALES WITH THE FRAGILE SITE AT Xq28
Author(s) -
Nielsen Karen Brosndum
Publication year - 1983
Publication title -
journal of intellectual disability research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.941
H-Index - 104
eISSN - 1365-2788
pISSN - 0964-2633
DOI - 10.1111/j.1365-2788.1983.tb00293.x
Subject(s) - fragile x syndrome , citation , fragile x , xq28 , library science , psychology , medicine , gerontology , psychiatry , x chromosome , genetics , computer science , biology , gene
The results of a clinical investigation of 27 males with the fragile X are reported; the age range was from 1 to 77 years. The medical history in pre-, peri- and early post-natal life was unremarkable. Birth weights tended to be above average. In infancy hypotonia and a large head were often found, together with retarded development. Macroorchidism was almost uniformly found after puberty, but apparently not often before. The facial features in the grown-up males were characteristic, confirming previous reports. Minor abnormalities of feet and hands were seen. Mental retardation was often in the moderate range, but all degrees were seen. Psychiatric symptoms were frequently seen, and one child was diagnosed as autistic. A developmental profile is outlined.