A de novo 10q11.23q22.1 deletion detected by whole genome mate-pair sequencing: a case report

A de novo 10q11.23q22.1 deletion detected by whole genome mate-pair sequencing: a case report

Abstract Background Interstitial deletions of chromosome band 10q11-q22 was a genomic disorder distinguished by developmental delay, congenital cleft palate and muscular hypotonia. The phenotypes involved were heterogeneous, hinge on the variable breakpoints and size. Case presentation Here, we pres...

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Bibliographic Details
Main Authors: Dalin Fu, Weisheng Lin, Fen Lu, Senjie Du, Min Zhu, Xiaoke Zhao, Jian Tang, Chuan Chen, Xiaoli Chui, Shanmei Tang, Kai Wang, Chuanchun Yang, Bei Han
Format: Article
Language:English
Published: BMC 2021-05-01
Series:BMC Pediatrics
Subjects:
Whole-genome mate-pair sequencing
10q11-q22 deletion syndrome
Developmental delay
Congenital cleft palate
Online Access:https://doi.org/10.1186/s12887-021-02723-y

Internet

https://doi.org/10.1186/s12887-021-02723-y

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