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一名患有两种新发明显平衡易位的异常儿童的产前诊断及产后随访

Prenatal diagnosis and postnatal follow-up of an abnormal child with two de novo apparently balanced translocations.

作者信息

Stoll C, Flori E, Macler J, Renaud R

出版信息

Hum Genet. 1979 Mar 12;47(2):221-4. doi: 10.1007/BF00273207.

Abstract

By prenatal diagnosis two apparently unrelated reciprocal translocations involving chromosomes 6/15 and 13/14 were revealed in a fetus in whom echography demonstrated an abdominal tumor. Pregnancy continued. At birth the child had dysmorphia and hydronephrosis, for which surgery was performed. The psychomotor development was delayed. These abnormalities may be the result of the loss of a small amount of chromosomal material accompanying these translocations.

摘要

通过产前诊断,在一名超声检查显示腹部有肿瘤的胎儿中发现了两个明显不相关的相互易位,涉及6号和15号染色体以及13号和14号染色体。妊娠继续。出生时,该儿童有畸形和肾积水,并接受了手术治疗。其精神运动发育延迟。这些异常可能是伴随这些易位而丢失少量染色体物质的结果。

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