一名新生儿患48,XXX,+18双三体综合征。

Double trisomy 48,XXX,+ 18 in a newborn.

作者信息

Rosenfeld W, Verma R S, Jhaveri R C, Salazar D, Dosik H

出版信息

Am J Med Genet. 1981;8(1):67-71. doi: 10.1002/ajmg.1320080109.

DOI:10.1002/ajmg.1320080109

Abstract

We report the 6th case of double trisomy X and 18 ie, 48,XXX,+ 18. The infant lacked overlapping fingers, simian creases, and structural heart disease and is alive at 275 days. Two X chromosomes were late replicating. Anomalies of the hands and kidneys involved only the right side in the present case; review of the five previous cases of 48,XXX, +18 also showed that anomalies of kidneys, hands, and ears affected predominantly the right side in three patients.

摘要

我们报告第6例X染色体和18号染色体双三体病例，即48,XXX,+18。该婴儿没有手指重叠、猿掌纹和结构性心脏病，在275天时仍然存活。两条X染色体复制延迟。在本例中，手和肾脏的异常仅累及右侧；回顾之前5例48,XXX,+18病例也显示，三名患者的肾脏、手和耳朵异常主要累及右侧。