由于母亲的相互易位t(12;18)(p11;q23)的相邻1分离导致的12号染色体短臂三体。
Trisomy 12p due to an adjacent 1 segregation of a maternal reciprocal translocation t(12;18) (p11;q23).
作者信息
Tenconi R, Giorgi P L, Tarantino E, Formica A
出版信息
Ann Genet. 1978 Dec;21(4):229-33.
PMID:314261
Abstract
A 5, 9-12-year-old with trisomy 12 pdue to a maternal reciprocal translocation adjacent 1 segregation is presented. Comparison of his phenotype with that of other patients reported in the literature confirm the existence of a trisomy syndrome.
摘要
本文报告了一名5至9岁的儿童，因母亲的1号染色体相邻易位导致12号染色体三体。将他的表型与文献中报道的其他患者进行比较，证实了一种三体综合征的存在。
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