| A new X-linked mental retardation syndrome. | |
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MedLine Citation:
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PMID: 4025397 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We have studied a three-generation family with 11 moderately to severely retarded males and three mildly retarded females (presumably manifesting carriers). The patients have a phenotype different from that of all other previously described types of X-linked MR (XLMR). These include short stature, macrocephaly, "coarse" facial appearance including prominent forehead and supraorbital ridges, hypertelorism, broad nasal tip with anteverted nostrils, and thick lips. All postpubertal males had macroorchidism (volume greater than 25 ml). Chromosomes were normal including fragile X analysis. X-ray findings of skull, spine, and hands were normal. The intellectually normal relatives do not resemble their affected relatives except for increased head size and testicular size. These findings suggest a new variant of XLMR different from fragile X-linked MR, the Coffin-Lowry syndrome, and other XLMR conditions. |
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Authors:
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J F Atkin; K Flaitz; S Patil; W Smith |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 21 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1985 Aug |
Date Detail:
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Created Date: 1985-09-24 Completed Date: 1985-09-24 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 697-705 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Dentition Face / abnormalities Female Humans Male Mental Retardation / genetics*, pathology Pedigree Testis / pathology X Chromosome* |
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