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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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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
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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
Language:
English
Keywords:
Pubs id:
pubs:250378
UUID:
uuid:69a6f046-8d76-48a6-b1fd-9798f98517a1
Local pid:
pubs:250378
Deposit date:
2013-02-20

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