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Open Access 01-12-2021 | Case report

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

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

Published in: BMC Pediatrics | Issue 1/2021

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 presented a patient with soft palate cleft, growth and development delay. The patient was a 2 years and 5 months girl who was not able to walk unless using a children’s crutches to support herself. Whole-exome sequencing (WES) and whole-genome mate-pair sequencing (WGMS) were both performed by next generation sequencing (NGS). A 20.76 Mb deletion at 10q11.23q22.1 (seq[GRCh37/hg19]del(10)(50,319,387-71,083,899) × 1) was revealed by the WGMS, which was verified as de novo by quantitative polymerase chain reaction (QPCR).

Conclusion

Children with 10q11-q22 deletions greater than 20 MB have never been reported before, and we are the first to report and provide a detailed clinical phenotype, which brings further knowledge of 10q11-q22 deletions.

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Title: A de novo 10q11.23q22.1 deletion detected by whole genome mate-pair sequencing: a case report
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
Publication date: 01-12-2021
Publisher: BioMed Central
Published in: BMC Pediatrics / Issue 1/2021
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-021-02723-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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