Dalin Fu1, Weisheng Lin2, Fen Lu1, Senjie Du1, Min Zhu1, Xiaoke Zhao1, Jian Tang1, Chuan Chen2, Xiaoli Chui2, Shanmei Tang2, Kai Wang2, Chuanchun Yang2, Bei Han3. 1. Department of rehabilitation, Nanjing Children's Hospital Affiliated to Nanjing Medical University, Nanjing, China. 2. CheerLand Precision Biomed Co., Ltd, Shenzhen, China. 3. Department of Pediatric Endocrinology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, Nanjing, 210008, China. linweisheng@cheerlandgroup.com.
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.
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.
Authors: Zhenyu Li; Xiaodong Xi; Minyi Gu; Robert Feil; Richard D Ye; Martin Eigenthaler; Franz Hofmann; Xiaoping Du Journal: Cell Date: 2003-01-10 Impact factor: 41.582
Authors: Peter J Mohler; Ilaria Rivolta; Carlo Napolitano; Guy LeMaillet; Stephen Lambert; Silvia G Priori; Vann Bennett Journal: Proc Natl Acad Sci U S A Date: 2004-12-03 Impact factor: 11.205
Authors: Magdalena Bartnik; Beata Nowakowska; Katarzyna Derwińska; Barbara Wiśniowiecka-Kowalnik; Marta Kędzior; Joanna Bernaciak; Kamila Ziemkiewicz; Tomasz Gambin; Maciej Sykulski; Natalia Bezniakow; Lech Korniszewski; Anna Kutkowska-Kaźmierczak; Jakub Klapecki; Krzysztof Szczałuba; Chad A Shaw; Tadeusz Mazurczak; Anna Gambin; Ewa Obersztyn; Ewa Bocian; Paweł Stankiewicz Journal: J Appl Genet Date: 2013-12-03 Impact factor: 3.240