12号染色体短臂三体综合征：一名智力发育迟缓男孩新发嵌合型12号染色体短臂三体。

Trisomy 12p syndrome: de novo occurrence of mosaic trisomy 12p in a mentally retarded boy.

作者信息

Kondo I, Hamaguchi H, Haneda T

出版信息

Hum Genet. 1979 Jan 25;46(2):135-40. doi: 10.1007/BF00291913.

DOI:10.1007/BF00291913

Abstract

The first case of trisomy of probable 12p mosaicism originated de novo is presented. Comparison of the clinical findings of this patient with those of previously described cases of 12p trisomy derived from translocated chromosomes indicates that the symptoms of 12p trisomy are: (1) normal birth weight and physical development, (2) severe psychomotor retardation and generalized hypotonia, (3) peculiarly round face with prominent cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short nose with anteverted nostrils, large philtrum, broad, prominent lower lip, and (4) poly(syn)dactyly of feet.

摘要

本文报告了首例可能源自新发嵌合型12号染色体三体的病例。将该患者的临床发现与先前描述的由易位染色体导致的12号染色体三体病例的临床发现进行比较，结果表明12号染色体三体的症状包括：（1）出生体重和身体发育正常；（2）严重精神运动发育迟缓及全身肌张力减退；（3）面部特别圆，脸颊突出，眼距增宽，内眦赘皮，鼻梁宽且扁平，鼻子短，鼻孔前倾，人中宽，下唇宽且突出；（4）足部多指（趾）畸形。