ACROCALLOSAL SYNDROME IN A CHILD WITH DENOVO INVERTED TANDEM DUPLICATION OF 12P11.2 - P13.3

被引：1
|
作者：
PFEIFFER, RA [1 ]
LEGAT, G [1 ]
TRAUTMANN, U [1 ]
机构：
[1] MARIENKRANKENHAUS AMBERG,KINDERKLIN,AMBERG,GERMANY
来源：
ANNALES DE GENETIQUE | 1992年 / 35卷 / 01期
关键词：
ACROCALLOSAL SYNDROME; TANDEM DUPLICATION 12P;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Report on the child of normal unrelated parents presenting the typical features of acrocallosal syndrome (craniofacial dysmorphy, mental deficiency, convulsive disorder, agenesis of corpus callosum, preaxial polydactyly "hallux duplex" of both feet, and in addition diabetes insipidus) in which a mirror duplication of nearly the entire short arm of chromosome 12 was discovered. Since the symptomatology of trisomy and tetrasomy 12p shows some overlap with acrocallosal syndrome a common origin of the monogenic disorder and the chromosomal phenotypes is discussed.
引用
收藏
页码：41 / 46
页数：6
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