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2号染色体(p11p13)倒位:频率及对遗传咨询的意义

Inversion of chromosome 2 (p11p13): frequency and implications for genetic counselling.

作者信息

MacDonald I M, Cox D M

出版信息

Hum Genet. 1985;69(3):281-3. doi: 10.1007/BF00293042.

Abstract

Two cases of a pericentric inversion of chromosome 2 were found amongst 3619 blood specimens referred for karyotypic analysis. An additional three cases were identified within 1820 pregnancies presenting for genetic amniocentesis because of late maternal age. The implications for management in these cases are discussed.

摘要

在送交进行核型分析的3619份血液样本中,发现了2例2号染色体臂间倒位。在因产妇年龄偏大而进行遗传羊膜穿刺术的1820例妊娠中,又发现了3例。本文讨论了这些病例的处理方法。

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