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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Abstract:

BACKGROUND: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. AIM: We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. RESULTS: We estimate the prevalence of the syndrome to be 1 in 16,000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developm...

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Publisher copy:
10.1136/jmg.2008.058701

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Journal:
Journal of medical genetics
Volume:
45
Issue:
11
Pages:
710-720
Publication date:
2008-11-05
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
URN:
uuid:086504d4-1f86-4092-8ad9-4cdf44f007c2
Source identifiers:
95893
Local pid:
pubs:95893

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