Fryns J P, van de Kerckhove A, Goddeeris P, van den Berghe H
Hum Genet. 1977 Sep 22;38(2):147-55. doi: 10.1007/BF00527396.
A female newborn with full triploidy and multiple malformations, who survived for 2 months, is presented. In all examined lymphocytes and fibroblasts a 69,XXX karyotype was found. Banding studies showed the presence of one 9qh in the mother and two 9qh chromosomes in the child, indicating that the triploidy arose from the failure to expel the second polar body.
本文报告了一名患有完全三倍体和多种畸形的女性新生儿,该患儿存活了2个月。在所有检测的淋巴细胞和成纤维细胞中均发现69,XXX核型。染色体显带研究显示,母亲有一条9qh染色体,患儿有两条9qh染色体,这表明三倍体是由于第二极体未排出所致。