Cohen M M, Ornoy A, Rosenmann A, Kohn G
Ann Genet. 1975 Jun;18(2):99-103.
A four year old girl with severe mental retardation and multiple congenital abnormalities manifested "partial trisomy 15". Her mother, pregnant at the time of examination, possessed a balanced translocation which, after banding techniques, was identified as t(4;15)(p16;q22). Amnio-centesis revealed the karyotype of the fetus to be identical to that of the proposita and a therapeutic abortion was performed. Prenatal investigation of a subsequent pregnancy revealed a normal male karyotype. Comparison of the proposita and aborted fetus of this family with the 5 reported other cases of "partial trisomy 15" does not allow for a precise recognizable clinical syndrome.
一名患有严重智力迟钝和多种先天性异常的4岁女孩表现出“15号染色体部分三体”。她的母亲在检查时怀孕,拥有一种平衡易位,经显带技术鉴定为t(4;15)(p16;q22)。羊水穿刺显示胎儿的核型与先证者相同,于是进行了治疗性流产。对随后一次怀孕的产前检查显示胎儿核型正常为男性。将这个家庭的先证者和流产胎儿与其他5例报告的“15号染色体部分三体”病例进行比较,未发现确切可识别的临床综合征。