SEX-CHROMOSOME ABERRATION WITH A 48,XYYY KARYOTYPE - A CASE-REPORT ON THE PHENOTYPE OF A RARE SEX-CHROMOSOME COMPLEMENT

被引:0
|
作者
STEIN, A [1 ]
HEILBRONNER, H [1 ]
JUNGMANN, J [1 ]
机构
[1] STADT FRAUENKLIN,KLIN GENET ABT,STUTTGART,GERMANY
关键词
SEX CHROMOSOME ANEUPLOIDY; KARYOTYPE; 48; XYYY; PSYCHOLOGICAL AND SOMATIC ASPECTS; DIAGNOSIS ON CYTOGENETIC LEVEL; CASE REPORT;
D O I
暂无
中图分类号
R749 [精神病学];
学科分类号
100205 ;
摘要
This is a case report on a 19-year-old patient with the chromosome constellation 48, XYYY. The patient showed signs of dysmorphism, mental retardation and problems in psychosocial functioning. A literature review revealed that individuals with this karyotype have widely varying phenotypes with regard not only to physical signs but also to brain functions and cognitive performance.
引用
收藏
页码:130 / 134
页数:5
相关论文
共 50 条