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Journal article

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.

Abstract:

Fluorescent in situ hybridization (FISH) screening of subtelomeric rearrangements has resulted in the identification of previously unrecognized chromosomal causes of mental retardation with and without dysmorphic features. This article reports the phenotypic and molecular breakpoint characterization in a cohort of 12 patients with subtelomeric deletions of chromosome 9q34. The phenotypic findings are consistent amongst these individuals and consist of mental retardation, distinct facial featu...

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Publication status:
Published

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Publisher copy:
10.1002/ajmg.a.30136

Authors


Stewart, DR More by this author
Faravelli, F More by this author
Anderlid, BM More by this author
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Journal:
American journal of medical genetics. Part A
Volume:
128A
Issue:
4
Pages:
340-351
Publication date:
2004-08-05
DOI:
EISSN:
1552-4833
ISSN:
1552-4825
URN:
uuid:b012d0f5-0707-4e67-baa9-a8c451953cbb
Source identifiers:
39144
Local pid:
pubs:39144

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