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在三代人中观察到13号染色体长臂2区与22号染色体之间的易位,并伴有易位型D1-三体综合征的分离。

Transmission of a t(13q22q) chromosome observed in three generations with segregation of the translocation D1-trisomy syndrome.

作者信息

Abe T, Morita M, Kawai K, Misawa S, Kanai H, Hirose G, Fujita H

出版信息

Humangenetik. 1975 Sep 20;30(3):207-15. doi: 10.1007/BF00279186.

Abstract

A case of an inherited type of D/G translocation D1-trisomy syndrome was described. A female proposita who had the clinical signs of D1-trisomy syndrome was found to have a chromosome complement of 46,XX,--G,+t(DqGq). examination of Q- and G-stained karyotypes revealed that the chromosomes involved in the translocation were members of Nos. 13 and 22, or t(13q22q) with breaks at p12 of both chromosomes. C-stained figures also showed a large heterochromatin block in its centromeric region. The t(13q22q) chromosome was transmitted from the paternal grandmother of the proposita through at least three generations.

摘要

描述了一例遗传性D/G易位D1-三体综合征病例。一名具有D1-三体综合征临床体征的女性先证者被发现染色体组成为46,XX,--G,+t(DqGq)。对Q带和G带核型的检查显示,参与易位的染色体是13号和22号染色体的成员,即t(13q22q),两条染色体均在p12处断裂。C带图也显示其着丝粒区域有一个大的异染色质块。t(13q22q)染色体从先证者的祖母至少经三代遗传而来。

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