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核型正常的家族性囊状水瘤

Familial cystic hygroma with normal karyotype.

作者信息

Watson W J, Thorp J M, Seeds J W

机构信息

Maternal Fetal Medicine, University of North Carolina, Chapel Hill 27599-7570.

出版信息

Prenat Diagn. 1990 Jan;10(1):37-40. doi: 10.1002/pd.1970100107.

Abstract

A patient is described who had three consecutive fetuses with cystic hygroma and hydrops, two of which had documentation of normal karyotype. Some twenty percent of fetuses with cystic hygroma have a normal karyotype, and many of these have other major malformations. An autosomal recessive pattern of inheritance has been postulated, but cystic hygroma may also occur in association with a variety of syndromes, some of which have other patterns of inheritance.

摘要

本文描述了一位患者,其连续三次怀孕的胎儿均患有囊性水瘤和水肿,其中两个胎儿的染色体核型记录显示正常。约20%患有囊性水瘤的胎儿染色体核型正常,其中许多还伴有其他严重畸形。有人推测其遗传模式为常染色体隐性遗传,但囊性水瘤也可能与多种综合征相关,其中一些综合征具有其他遗传模式。

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