Annerén G, Gustavson K H
Clin Genet. 1982 Jul;22(1):16-21. doi: 10.1111/j.1399-0004.1982.tb01404.x.
A familial 13p;15q translocation was ascertained through a mentally retarded boy with a proximal trisomy 15 syndrome. His mother, who was a balanced 13p;15q carrier, had in addition a legal abortion after 22 weeks of gestation because of a prenatal diagnosis of distal trisomy 15 in a male foetus. Her mother and two sisters, who were balanced carriers, all had children with either a normal karyotype or a balanced translocation or had had pregnancies resulting in an early spontaneous abortion.
通过一名患有近端15号染色体三体综合征的智障男孩确诊了一例家族性13号染色体与15号染色体易位。他的母亲是一名13号染色体与15号染色体平衡携带者,此外,由于产前诊断出一名男性胎儿患有远端15号染色体三体,她在妊娠22周后进行了合法堕胎。她的母亲和两个姐妹都是平衡携带者,她们所生的孩子核型均正常或为平衡易位,或者怀孕后早期自然流产。