家族性染色体易位t(3;18)(p21;p11)
Familial chromosome translocation t(3;18)(p21;p11).
作者信息
Buchinger G, Wettstein A, Metze H
出版信息
J Med Genet. 1981 Apr;18(2):119-23. doi: 10.1136/jmg.18.2.119.
Abstract
A familial translocation t(3;18)(p21;p11) was observed in a newborn male. He had multiple malformations resulting from partial trisomy 3 and partial monosomy 18. The mother, maternal uncle, and maternal grandmother were found to be balanced translocation carriers. A daughter of the maternal uncle with similar malformations probably had the same unbalanced karyotype as the proband.
摘要
在一名新生男婴中观察到家族性易位t(3;18)(p21;p11)。他因3号染色体部分三体和18号染色体部分单体而出现多种畸形。发现母亲、舅舅和外祖母为平衡易位携带者。舅舅的一个患有类似畸形的女儿可能与先证者具有相同的不平衡核型。
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