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3例环状G染色体的产前诊断:1例21号、2例22号,其中1例为新发。

[Prenatal diagnosis of 3 cases of ring G chromosomes: one 21 and two 22, one of which was de novo].

作者信息

Crusi A, Engel E

出版信息

Ann Genet. 1986;29(4):253-60.

PMID:3495227
Abstract

Three cases of ring G chromosome diagnosed by amniocentesis are reported. In two instances there was paternal transmission of a ring (one r21 and one r22) without clinical manifestation in the fathers, and the two babies resulting from these pregnancies were normal at birth. In the third case, in which a de novo ring 22 was observed in association with IUGR and oligoamnios, the fetus was aborted. The variable phenotypic effects of ring G chromosomes, as well as several aspects of genetic counseling are discussed.

摘要

报告了3例经羊膜穿刺术诊断的环状G染色体病例。其中2例为环状染色体(1例r21和1例r22)的父系遗传,父亲无临床表现,这两次妊娠所生的两个婴儿出生时正常。在第3例中,观察到一条新生的环状22号染色体,伴有宫内生长受限和羊水过少,胎儿流产。文中讨论了环状G染色体的可变表型效应以及遗传咨询的几个方面。

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