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Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.

Abstract:

We have analyzed a recently described 22q13.3 microdeletion in a child with some overlapping features of the cytologically visible 22q13.3 deletion syndrome. Patient NT, who shows mild mental retardation and delay of expressive speech, was previously found to have a paternal microdeletion in the subtelomeric region of 22q. In order to characterize this abnormality further, we have constructed a cosmid/P1 contig covering the terminal 150 kb of 22q, which encompasses the 130-kb microdeletion. T...

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Publication status:
Published

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Role:
Author
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Journal:
American journal of human genetics
Volume:
60
Issue:
1
Pages:
113-120
Publication date:
1997-01-05
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:c7e3c099-0773-442b-ad02-97b80bf0c771
Source identifiers:
45491
Local pid:
pubs:45491

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