Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p

BACKGROUND: Deletions or duplications of chromosome 19 are rare and there is no previous report in the literature of a ring chromosome derived from proximal 19p. Copy Number Variants (CNVs) responsible for complex phenotypes with Social Communication Disorder (SCD), may contribute to improve knowled...

Descripción completa

Detalles Bibliográficos
Autores principales: Demily, Caroline, Rossi, Massimiliano, Chesnoy-Servanin, Gabrielle, Martin, Brice, Poisson, Alice, Sanlaville, Damien, Edery, Patrick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411819/
https://www.ncbi.nlm.nih.gov/pubmed/25496186
http://dx.doi.org/10.1186/s12881-014-0132-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411819/
https://www.ncbi.nlm.nih.gov/pubmed/25496186
http://dx.doi.org/10.1186/s12881-014-0132-3

Ejemplares similares