Recurrence of Angelman Syndrome in Siblings: Challenges in Genetic Counseling

被引：0
|
作者：
Dhanya Yesodharan
M. V. Thampi
Teena Koshy
Sheela Nampoothiri
机构：
[1] Amrita Institute of Medical Sciences and Research Center,Department of Pediatric Genetics
[2] Amrita Institute of Medical Sciences and Research Center,Department of Human Cytogenetics
[3] Sri Ramachandra University,Department of Human Genetics
来源：
The Indian Journal of Pediatrics | 2014年 / 81卷
关键词：
Angelman syndrome; Recurrence; Chromosomal anomaly; Translocation;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
The authors report a rare occurrence of two siblings with Angelman syndrome. Their karyotype revealed monosomy of chromosome 15 and a derivative chromosome 1 leading to Angelman syndrome. Their mother was a balanced translocation carrier involving chromosomes 1p and 15p. In her subsequent pregnancy, prenatal karyotype analysis was offered and the fetus was unaffected.
引用
收藏
页码：292 / 295
页数：3
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