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Article

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

European journal of human genetics : EJHG - 1 Sept 2004

Mirza Ghazala, Williams Ruth R, Mohammed Shela, Clark Robin, Newbury-Ecob Ruth, Baldinger Shari, Flinter Frances, Ragoussis Jiannis

Abstract excerpt

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...

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Identifiers

PMID: 15150541
DOI: 10.1038/sj.ejhg.5201194

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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