Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman

BACKGROUND: The 18p terminal deletion with inverted duplication is an extremely rare chromosome structure abnormality and the common clinical manifestations include intellectual disability and speech delay, etc. Up to now, only three confirmed cases were reported in Europe, and here, for the first t...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhu, Jianjiang, Qi, Hong, Cao, Sha, Cai, Lirong, Wen, Xiaohui, Tang, Guodong, Wan, Qian, Chen, Chen, Wang, Juan, Zeng, Wen, Luo, Yao
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/PMC6732341/
https://www.ncbi.nlm.nih.gov/pubmed/31317671
http://dx.doi.org/10.1002/mgg3.868

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732341/
https://www.ncbi.nlm.nih.gov/pubmed/31317671
http://dx.doi.org/10.1002/mgg3.868

Ejemplares similares