Tetrasom铆a X (cariotipo 48,XXXX) en una ni帽a con trastorno de conducta
- 作者：Maria José ; Rodadoa ; Irene Manchó ; n Trivesb ; Belé ; n Lledó ; Boschc ; Francisco Galá ; n Sá ; nchezb ; fgalan@centrodegeneticahumana.com
- 关键词：Tetrasomí ; a X ; Retraso mental ; Cariotipo ; Alteració ; n de conducta
- 刊名：Revista de Psiquiatr铆a y Salud Mental
- 出版年：2010
- 期刊代码：pca395_18889891
- 类别：psy
- 出版时间：July-September 2010
- 卷：3
- 期：3
- 页码：102-105
- 文件大小：224 K
摘要
Introduction
We report the case of a 14-year-old girl with mental retardation and dysmorphic features referred to child psychiatry because of altered behavior at school.
Material and methods
Karyotyping (GTG banding), in situ fluorescent hybridization (FISH) and molecular study of parental origin by polymorphic STS were performed.
Results
Genetic study revealed a 48,XXXX karyotype with a maternal origin of the X-tetrasomy. The mechanism was successive non-dysjunction at meiosis I and II.
Conclusions
The interest of this case lies in the rarity of the chromosomal anomaly and its late diagnosis, leading to a failure to adapt the girl's education to her needs, with consequences for her psyche.