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

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...

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Detalles Bibliográficos
Autores principales: Fu, Dalin, Lin, Weisheng, Lu, Fen, Du, Senjie, Zhu, Min, Zhao, Xiaoke, Tang, Jian, Chen, Chuan, Chui, Xiaoli, Tang, Shanmei, Wang, Kai, Yang, Chuanchun, Han, Bei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8167982/
https://www.ncbi.nlm.nih.gov/pubmed/34059004
http://dx.doi.org/10.1186/s12887-021-02723-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8167982/
https://www.ncbi.nlm.nih.gov/pubmed/34059004
http://dx.doi.org/10.1186/s12887-021-02723-y

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