一条18号环状染色体从一名具有46,XX/47,XX, + r(18)嵌合体的母亲遗传给她的女儿，导致女儿的核型为46,XX,r(18)。
Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.
作者信息
Jenderny J, Caliebe A, Beyer C, Grote W
机构信息
Department of Human Genetics, Christian-Albrechts-Universität zu Kiel, Germany.
出版信息
J Med Genet. 1993 Nov;30(11):964-5. doi: 10.1136/jmg.30.11.964.
Abstract
A 6 month old patient is reported with a ring chromosome 18 confirmed by cytogenetic studies and in situ hybridisation. Her clinical features were similar to previous cases of ring chromosome 18 syndrome. The ring chromosome was inherited from the phenotypically and mentally normal mother with a mos 46,XX/47,XX, + r(18) karyotype.
摘要
据报道，一名6个月大的患者经细胞遗传学研究和原位杂交证实存在18号环状染色体。她的临床特征与先前报道的18号环状染色体综合征病例相似。该环状染色体遗传自表型和智力正常的母亲，其核型为46,XX/47,XX, + r(18)嵌合体。
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