TRISOMY 12P SYNDROME - DENOVO OCCURRENCE OF MOSAIC TRISOMY 12P IN A MENTALLY-RETARDED BOY

被引：26

作者：

KONDO, I ^{[1
]}

HAMAGUCHI, H ^{[1
]}

HANEDA, T ^{[1
]}

机构：

[1] IBARAKI PREFECTURAL HOSP,DEPT PSYCHOL,IBARAKI,JAPAN

来源：

HUMAN GENETICS | 1979年 / 46卷 / 02期

关键词：

D O I：

10.1007/BF00291913

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. © 1979 Springer-Verlag.

引用

页码：135 / 140

页数：6

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