沃尔夫-赫希霍恩综合征：一项细胞遗传学研究证实的病例
Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study.
作者信息
Pokale Yamini S, Jadhav Ajinkya M, Kate Ushang
机构信息
Department of Cytogenetic, PreventiNe Life Care, 2 Floor, RPT House, Plot No.6, Sector 24, Turbhe, Navi Mumbai-400705, India.
出版信息
Indian J Hum Genet. 2012 Jan;18(1):117-8. doi: 10.4103/0971-6866.96677.
Abstract
We present a case with a 4p terminal deletion, evidenced in GTG-banded chromosome study. Phenotypic signs described in the classical Wolf-Hirschhorn syndrome were found on clinical examination of our patient.
摘要
我们报告一例经GTG显带染色体研究证实存在4p末端缺失的病例。在对我们的患者进行临床检查时发现了经典型沃尔夫-赫希霍恩综合征中所描述的表型体征。
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