Journal article
PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.
- Abstract:
-
We report a three-generation family manifesting a previously undescribed X-linked mental retardation syndrome. Four of the six moderately retarded males have had episodes of manic-depressive psychosis. The phenotype also includes pyramidal signs, Parkinsonian features, and macroorchidism, but there are no characteristic dysmorphic facial features. Affected males do not show fragile sites at distal Xq on cytogenetic analysis, nor do they have expansions of the CGG repeats at the FRAXA, FRAXE, ...
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Bibliographic Details
- Journal:
- American journal of human genetics
- Volume:
- 58
- Issue:
- 6
- Pages:
- 1120-1126
- Publication date:
- 1996-06-01
- EISSN:
-
1537-6605
- ISSN:
-
0002-9297
- Source identifiers:
-
250378
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:250378
- UUID:
-
uuid:69a6f046-8d76-48a6-b1fd-9798f98517a1
- Local pid:
- pubs:250378
- Deposit date:
- 2013-02-20
Terms of use
- Copyright date:
- 1996
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