The tale of a nail sign in chromosome 4q34 deletion syndrome.

作者信息

Vogt Julie, Ryan Ethel, Tischkowitz Marc D, Reardon William, Brueton Louise A

机构信息

Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, West Midlands, UK National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland NE Thames Regional Genetics Service-Clinical Genetics Unit, Great Ormond Street Hospital for Children NHS Trust, London, UK.

出版信息

Clin Dysmorphol. 2006 Jul;15(3):127-132. doi: 10.1097/01.mcd.0000203632.86190.64.

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.