Trisomy 12p syndrome
Trisomy 12p syndrome
复制标题
12p三体综合征
DOI：
10.1007/bf00291913
复制
发表时间：
1979
期刊：
影响因子：
5.3
通讯作者：
T. Haneda
中科院分区：
文献类型：
--
作者：
I. Kondo;H. Hamaguchi;T. Haneda
SummaryThe 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.
