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Delineation of two distinct 6p deletion syndromes.

Abstract:

Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instances. We present the molecular cytogenetic investigation of six cases with 6p deletions and two cases with unbalanced translocations resulting in monosomy of the distal part of 6p. The breakpoints of the deletions have been determined accurately by...

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Publication status:
Published

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Publisher copy:
10.1007/s004390050911

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Journal:
Human genetics More from this journal
Volume:
104
Issue:
1
Pages:
64-72
Publication date:
1999-01-01
DOI:
EISSN:
1432-1203
ISSN:
0340-6717
Language:
English
Keywords:
Pubs id:
pubs:71790
UUID:
uuid:cd89d870-ea56-4c92-a852-a4888c966a5e
Local pid:
pubs:71790
Source identifiers:
71790
Deposit date:
2012-12-19

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