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Journal article

Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.

Abstract:

Clinical reports of cases with deletions in chromosome 6p are relatively rare. We present a detailed study by fluorescent in situ hybridisation (FISH) of six new cases with distinct but overlapping 6p deletions involving the 6p24-pter chromosomal segment. Chromosomal breakpoints in individual cases were investigated using a large panel of probes previously mapped and characterised in our laboratory to cover the distal region of 6p. These cases have allowed refinement of genotype-phenotype cor...

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Publication status:
Published

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Publisher copy:
10.1038/sj.ejhg.5201194

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Journal:
European journal of human genetics : EJHG
Volume:
12
Issue:
9
Pages:
718-728
Publication date:
2004-09-05
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
URN:
uuid:fb2d6121-7e69-492c-865a-2f7ba6e7c681
Source identifiers:
71810
Local pid:
pubs:71810

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