一名因家族性臂间倒位而患有dup(7pter-p15.1)和del(7q36-qter)的儿童出现的畸形。
Malformations in a child with dup (7pter-p15.1) and del (7q36-qter) as a result of familial pericentric inversion.
作者信息
Ramer J C, Mowrey P N, Ladda R L
机构信息
Department of Pediatrics, Milton S. Hershey Medical Center, Hershey, PA.
出版信息
Clin Genet. 1991 Jun;39(6):442-50. doi: 10.1111/j.1399-0004.1991.tb03056.x.
Abstract
We describe a child with multiple anomalies and severe retardation with dup 7pter-p15.1 and del 7q36-qter as a result of a parental pericentric inversion of chromosome 7. The pericentric inversion was found in family members in 3 generations with 9 liveborn children who had severe anomalies probably associated with imbalances of chromosome 7.
摘要
我们描述了一名患有多种异常和严重发育迟缓的儿童，其因父母一方的7号染色体臂间倒位导致7pter-p15.1重复和7q36-qter缺失。在三代家庭成员中发现了这种臂间倒位，有9名活产儿童存在严重异常，可能与7号染色体失衡有关。
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