一对习惯性自然流产夫妇中14号染色体臂内倒位加罕见的9p变异

Paracentric inversion of chromosome 14 plus rare 9p variant in a couple with habitual spontaneous abortion.

作者信息

Turczynowicz S, Sharma P, Smith A, Davidson A A

机构信息

Cytogenetics Laboratory, Children's Hospital, Sydney, Australia.

出版信息

Ann Genet. 1992;35(1):58-60.

PMID:1610123

Abstract

A couple presenting with habitual spontaneous abortion both showed a chromosome rearrangement. The male had an apparently balanced paracentric inversion of chromosome 14 - 46,XY,inv(14) (q11q32). The female had a karyotype with a rare large short arm variant of chromosome 9 - 46,XX,var(9) (p11p21). Testing of a living normal child showed that he had inherited both rearrangements. Family testing showed the chromosome 9 variant in three generations, with all carriers being of normal phenotype and intelligence. This study confirms that the presence of more than one chromosomal rearrangement can be compatible with normal development. This is useful for genetic counselling. Nevertheless when such cases arise, each must be individually assessed.

摘要

一对患有习惯性自然流产的夫妇都表现出染色体重排。男方有一个明显平衡的14号染色体臂间倒位——46,XY,inv(14)(q11q32)。女方的核型为罕见的9号染色体短臂大片段变异——46,XX,var(9)(p11p21)。对一个存活的正常孩子进行检测发现，他继承了这两种重排。家系检测显示9号染色体变异在三代人中出现，所有携带者的表型和智力均正常。本研究证实，存在不止一种染色体重排可能与正常发育兼容。这对遗传咨询很有用。然而，当出现此类病例时，必须对每个病例进行单独评估。