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Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene.

Abstract:

An X;8 translocation was identified in a 27-year-old female patient manifesting multiple exostoses and autism accompanied by mental retardation and epilepsy. Through molecular analysis using yeast artificial chromosomes (YACs) and cosmid clones, the translocation breakpoint was isolated and confirmed to be reciprocal within a 5'-GGCA-3' sequence found on both X and 8 chromosomes without gain or loss of a single nucleotide. The translocation breakpoint on the X chromosome occurred in the first...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/6.8.1241

Authors


Ishikawa-Brush, Y More by this author
Powell, JF More by this author
Miller, AP More by this author
Francis, F More by this author
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Journal:
Human molecular genetics
Volume:
6
Issue:
8
Pages:
1241-1250
Publication date:
1997-08-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:2543a259-dbc4-4198-a06f-d04223d59963
Source identifiers:
36077
Local pid:
pubs:36077

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