母亲的46,XX/46,XX,r(18)嵌合体中18号环状染色体的传递及她儿子的18号环状染色体综合征
Transmission of ring chromosome 18 46,XX/46,XX,r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son.
作者信息
Fryns J P, Kleczkowska A, Smeets E, Van Den Berghe H
机构信息
Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
出版信息
Ann Genet. 1992;35(2):121-3.
PMID:1524410
Abstract
Inheritance of ring chromosomes is reported infrequently. The authors report on a phenotypically and mentally normal mother with ring chromosome 18 mosaic with a normal cell line and her polymalformed son with non-mosaic 46,XY,r(18) karyotype.
摘要
环状染色体的遗传情况鲜有报道。作者报告了一位表型和智力正常、具有正常细胞系的18号环状染色体嵌合体母亲，以及她患有多发畸形、核型为46,XY,r(18)且非嵌合体的儿子。
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