A de novo 10q11.23q22.1 deletion detected by whole genome mate-pair sequencing: a case report
| Autor: | Chuanchun Yang, Fen Lu, Xiaoke Zhao, Kai Wang, Chuan Chen, Senjie Du, Weisheng Lin, Min Zhu, Jian Tang, Shanmei Tang, Xiaoli Chui, Dalin Fu, Bei Han |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Developmental delay Case Report 030105 genetics & heredity Pediatrics Genome RJ1-570 DNA sequencing 03 medical and health sciences Exome Sequencing medicine Humans Congenital cleft palate Child Genetics Muscular hypotonia Soft palate business.industry Breakpoint High-Throughput Nucleotide Sequencing Whole-genome mate-pair sequencing Phenotype Cleft Palate 030104 developmental biology medicine.anatomical_structure Real-time polymerase chain reaction Chromosome Band 10q11-q22 deletion syndrome Pediatrics Perinatology and Child Health Muscle Hypotonia Female business |
| Zdroj: | BMC Pediatrics, Vol 21, Iss 1, Pp 1-5 (2021) BMC Pediatrics |
| ISSN: | 1471-2431 |
| Popis: | 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: | OpenAIRE |
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