一名患有裂手畸形男孩的新发6号染色体长臂间质性缺失。
A de novo interstitial 6q deletion in a boy with a split hand malformation.
作者信息
Duran-Gonzalez Jorge, Gutierrez-Angulo Melva, Garcia-Cruz Diana, Ayala Maria de la Luz, Padilla Miguel, Davalos Ingrid P
机构信息
División de Genética, Instituto de Genética Humana Enrique Corona Rivera, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Sierra Mojada 800, Col. Independencia, Guadalajara, Jalisco, México.
出版信息
J Appl Genet. 2007;48(4):405-7. doi: 10.1007/BF03195240.
We report on a de novo interstitial deletion of (6)(q15q22.2) in a 5-year-old boy with developmental delay, microcephaly, facial dysmorphism, cryptorchidism, congenital heart defect, and split-hand malformation. Previous reports and this patient suggest that 6q21 may contain a gene or genes related either directly or indirectly to limb development.
我们报告了一名5岁男孩，其存在发育迟缓、小头畸形、面部畸形、隐睾症、先天性心脏缺陷和并指畸形，检测发现其6号染色体长臂（6）（q15q22.2）存在新发间质性缺失。既往报道及该患者提示，6q21可能包含一个或多个直接或间接与肢体发育相关的基因。
Zotero 插件