THE UNBALANCED OFFSPRING OF THE MALE CARRIERS OF THE 11Q-22Q TRANSLOCATION - NONDISJUNCTION AT MEIOSIS-II IN A BALANCED SPERMATOCYTE

被引：19

作者：

SIMI, P

CECCARELLI, M

BARACHINI, A

FLORIDIA, G

ZUFFARDI, O

机构：

[1] UNIV PISA,PEDIAT CLIN,CITOGENET LAB,I-56100 PISA,ITALY

[2] UNIV PAVIA,I-27100 PAVIA,ITALY

来源：

HUMAN GENETICS | 1992年 / 88卷 / 04期

关键词：

D O I：

10.1007/BF00215688

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Carriers of the standard translocation t(11;22) (q23.3;q11.2) produce only one type of unbalanced off-spring, a tertiary trisomy resulting into the karyotype 47,XX or XY, +der(22)t(11;22)(q23.3;q11.2), usually derived from the mother. The exception is one single patient 47,XY,t(11;22)(q23.3;q11.2), +der(22)t(11;22) (q23.3;,q11.2)pat. We report a second case with the same karyotype, also of paternal origin. Thus, the rare unbalanced offspring of a carrier father (only 5 cases known) may receive a supernumerary der(22), as a consequence of tertiary trisomy, but also as a consequence of nondisjunction at meiosis II of a balanced spermatocyte.

引用

页码：482 / 483

页数：2

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