Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report

BACKGROUND: Increasing number of case reports of mosaic mutations and deletions have better armed clinicians and geneticists with more accurate and focused prenatal diagnoses. Since mosaicism means a significant increase of recurrence risk, detailed parental profiling is essential for risk assessmen...

Descripción completa

Detalles Bibliográficos
Autores principales: Luo, Shiyu, Huang, Wen, Xia, Qiuping, Xia, Yan, Du, Qian, Wu, Lingqian, Duan, Ranhui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411709/
https://www.ncbi.nlm.nih.gov/pubmed/25421229
http://dx.doi.org/10.1186/s12881-014-0125-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411709/
https://www.ncbi.nlm.nih.gov/pubmed/25421229
http://dx.doi.org/10.1186/s12881-014-0125-2

Ejemplares similares