A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects

BACKGROUND: 22q11 deletion syndrome (22qDS) is caused by deletion of chromosome region 22q11.2. However, mosaic cases with 22q11.2 deletion syndrome (22q11.2DS) are rarely reported. METHODS: Chromosomal microarray analysis (CMA) and fluorescence in situ hybridization fluorescence in situ hybridizati...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Weicheng, Li, Xiaodi, Sun, Liqun, Sheng, Wei, Huang, Guoying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687652/
https://www.ncbi.nlm.nih.gov/pubmed/31297990
http://dx.doi.org/10.1002/mgg3.847

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687652/
https://www.ncbi.nlm.nih.gov/pubmed/31297990
http://dx.doi.org/10.1002/mgg3.847

Ejemplares similares