三代遗传的相互易位t(5;6)(p13;q27)：猫叫综合征病例报告
Reciprocal translocation t(5;6)(p13;q27) through three generations: case report of cri du chat syndrome.
作者信息
Hashimoto T, Tsukino R, Chiyo H, Furuyama J
出版信息
Hum Genet. 1980 Feb;53(2):145-7. doi: 10.1007/BF00273485.
PMID:7358380
Abstract
A male infant with cri du chat syndrome was found to have a deletion of the short arm of No. 5 chromosome and which was due to maternal reciprocal translocation t(5;6)(p13;q27). His elder sister and his grandfather were also identified as the translocation carriers.
摘要
一名患有猫叫综合征的男婴被发现5号染色体短臂缺失，这是由母亲的相互易位t(5;6)(p13;q27)所致。他的姐姐和祖父也被确定为易位携带者。
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