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

页码：292 / 295

页数：3

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