BMC Pediatrics (May 2021)

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

  • 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

DOI
https://doi.org/10.1186/s12887-021-02723-y
Journal volume & issue
Vol. 21, no. 1
pp. 1 – 5

Abstract

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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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