Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings

• Main Authors: Yuanyuan Zhang (Author), Xiaoliang Liu (Author), Haiming Gao (Author), Rong He (Author), Guoming Chu (Author), Yanyan Zhao (Author)
• Format: Book
• Published: BMC, 2021-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Deletion and duplication of the 3.7 Mb region in 17p11.2 result in two syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders. The purpose of this study was to determine the prevalence, genetic characteristics and clinical phenot...