3q29 Microduplication syndrome: a new family case of phenotype
heterogeneity
- Jin-hua Wu
, - Tian-shu Zhou,
- Man Wang,
- Yu-jie Jin,
- Rui Li,
- Yan Li,
- Sheng-long He,
- Juan-juan Zhang,
- Chao-yun Wang,
- Ping-an Xiong,
- Chun-lei Deng,
- Xiao-hua Tian,
- Lei Zhao,
- Chong Guo,
- Zhi-jun Zhang
Abstract
Here, we describe a family case carrier with 3q29 microduplication, a
1.56Mb and 1.68 Mb duplicate region, that was identified by CNV-seq.
Different from the common clinical traits of previously reported cases,
this family of individuals shows an apparently normal phenotype.
