Article

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

2021-05-17

Abstract excerpt

<h4>Background: </h4> Deletion and duplication of the -3.7 Mb region in 17p11.2 result in two reciprocal syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders. The purpose of this study is to identify the prevalence, genetic characteristics and clinical phenotype of 17p11.2 deletion/duplication in Chinese children with development delay and in fetuses with potent...

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Literature Corpus work: a4689362-8912-505a-a40a-20cbfc2584ab
DOI: 10.21203/rs.3.rs-474912/v1

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