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Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1).

Abstract:

A young adult female with multiple exostoses, short stature, autism, mental retardation and 46,X,t(X;8)(p22.13;q22.1) is described. Although the clinical features and translocation breakpoints raise the possibility of a number of specific conditions, the constellation of problems is not consistent with any previously reported genetic syndrome. It is argued that her clinical disorder is likely due to the chromosomal abnormality and that further detailed molecular genetic investigation may shed...

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Publication status:
Published

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Journal:
Psychiatric genetics
Volume:
5
Issue:
2
Pages:
51-55
Publication date:
1995-01-05
DOI:
EISSN:
1473-5873
ISSN:
0955-8829
URN:
uuid:e3951e92-88c9-4f59-98b8-4e2946a88d54
Source identifiers:
44846
Local pid:
pubs:44846

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