| Literature DB >> 16760729 |
Julie Vogt1, Ethel Ryan, Marc D Tischkowitz, William Reardon, Louise A Brueton.
Abstract
Relatively, few reports of deletions involving the distal long arm of chromosome 4 (4q) exist. Five further cases are described and the findings are compared with those in previous literature reports. Distal 4q deletions may be recognized by the distinctive appearance of the fifth finger, which is stiff with a hypoplastic distal phalanx and a hooked or volar nail. All cases with this characteristic fifth finger anomaly appear to have deletions involving 4q34.Entities:
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Year: 2006 PMID: 16760729 DOI: 10.1097/01.mcd.0000203632.86190.64
Source DB: PubMed Journal: Clin Dysmorphol ISSN: 0962-8827 Impact factor: 0.816