一名智力发育迟缓儿童的22号环状染色体以及其母亲的45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX核型嵌合体。
Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother.
作者信息
Fryns J P, Van den Berghe H
出版信息
Hum Genet. 1979 Mar 12;47(2):213-6. doi: 10.1007/BF00273205.
PMID:437787
Abstract
A ring chromosome 22 is described in a 6-year-old mentally retarded boy, who presented a dysmorphic syndrome. The ring chromosome 22 was inherited from the mother, in whom a 46,XX/46,XX,r(22)/45,XY,-15,-22,+t(15;22)(p11;q11) mosaic karyotype was found, indicating a high degree of instability of the chromosome(s) 22 in this woman.
摘要
在一名患有畸形综合征的6岁智力发育迟缓男孩中发现了一条22号环状染色体。这条22号环状染色体遗传自母亲，在其母亲身上发现了46,XX/46,XX,r(22)/45,XY,-15,-22,+t(15;22)(p11;q11)嵌合核型，表明该女性的22号染色体存在高度不稳定性。
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