Apparent germline mosaicism for a 15q11-q13 deletion causing recurrent Angelman syndrome in a Chinese family

Eur J Obstet Gynecol Reprod Biol. 2019 May:236:255-257. doi: 10.1016/j.ejogrb.2019.02.029. Epub 2019 Mar 7.

Authors

Hai-Shen Tang¹, De-Gang Wang¹, Xing-Mei Xie², Dong-Zhi Li³

Affiliations

¹ Prenatal Diagnosis Unit, Boai Hospital of Zhongshan, Zhongshan, Guangdong, China.
² Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
³ Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China. Electronic address: drlidongzhi2014@sina.com.

PMID: 30890277
DOI: 10.1016/j.ejogrb.2019.02.029

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Angelman Syndrome / genetics*
Asian People
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 15
Female
Germ-Line Mutation*
Humans
Male
Mosaicism*

Supplementary concepts

Chromosome 15q, partial deletion