一名13/15易位携带者的两个孩子中有一个患13三体综合征。
Trisomy 13 in the child of two carriers of a 13/15 translocation.
作者信息
Mori M A, Huertas H, Pinel I, Giralt P, Martínez-Frías M L
出版信息
Am J Med Genet. 1985 Jan;20(1):17-20. doi: 10.1002/ajmg.1320200104.
PMID:3970069
Abstract
We report on an infant girl with trisomy 13 resulting from an inherited 13-15 Robertsonian translocation identified in a family from a small Spanish village of only 2,100 inhabitants. Both parents and several other relatives had a balanced 13-15 translocation.
摘要
我们报告了一名患有13三体综合征的女婴，其病因是在一个仅有2100名居民的西班牙小村庄的一个家庭中发现的遗传性13 - 15罗伯逊易位。父母双方以及其他几名亲属都有平衡的13 - 15易位。
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