脐膨出合并桡骨射线缺如（ORR）：一例二倍体 - 三倍体混合倍体病例。

Omphalocele with absent radial ray (ORR): a case with diploid-triploid mixoploidy.

作者信息

Lin H J, Schaber B, Hashimoto C H, Barajas L, Beall M H, Lachman R S

机构信息

Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California 90502, USA.

出版信息

Am J Med Genet. 1998 Jan 23;75(3):235-9.

PMID:9475588

Abstract

We observed omphalocele, absence of radii, hypoplasia of one humerus, a hemivertebra, and syndactyly in a stillborn male at 22 weeks of gestation. Craniofacial and genitourinary abnormalities were absent. DNA measurement by flow cytometry on a paraffin-embedded autopsy specimen showed 32% triploid cells. ORR (omphalocele-radial ray) complex appears to be a consistent combination, and diploid-triploid mixoploidy may be one of its causes.

摘要

我们在一名妊娠22周的死产男胎中观察到脐膨出、桡骨缺失、一侧肱骨发育不全、半椎体和并指畸形。未见颅面及泌尿生殖系统异常。对石蜡包埋的尸检标本进行流式细胞术DNA测量显示32%的三倍体细胞。ORR（脐膨出-桡骨射线）综合征似乎是一种固定的组合，二倍体-三倍体混合倍体可能是其病因之一。