| Autor: |
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 |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
BMC Pediatrics, Vol 21, Iss 1, Pp 1-5 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1471-2431 |
| DOI: |
10.1186/s12887-021-02723-y |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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