期刊
CLINICAL DYSMORPHOLOGY
卷 15, 期 3, 页码 127-132出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/01.mcd.0000203632.86190.64
关键词
4q interstitial deletion; volar nail and 4q deletion
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.
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