一名活产婴儿的双三体病例：48，XXY，“13”

A case of double trisomy in a liveborn infant: 48, XXY, "13.

作者信息

Malhes J B, Moore C M, Gershank J J

出版信息

Clin Genet. 1977 Feb;11(2):147-50. doi: 10.1111/j.1399-0004.1977.tb01292.x.

DOI:10.1111/j.1399-0004.1977.tb01292.x

Abstract

Ambigouous genitalia, microcephaly, microphthalmia, hyoptelorism, single choanal opening, low-set ears, simian creases, Tetralogy of Fallot, bilateral hydronephrosis, and absence of the left ureter characterized an infant the died 1 hour postpartum with the karyotype 48,XXY,+13.

摘要

一名核型为48,XXY,+13的婴儿产后1小时死亡，其特征为生殖器模糊、小头畸形、小眼畸形、眼距过窄、单鼻孔开口、低位耳、猿掌纹、法洛四联症、双侧肾积水以及左输尿管缺如。