Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22

BACKGROUND: Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without accompanying deletions have rarely been reported. CASE PRESENTATION: Here we re...

Descripción completa

Detalles Bibliográficos
Autores principales: Schnabel, Franziska, Smogavec, Mateja, Funke, Rudolf, Pauli, Silke, Burfeind, Peter, Bartels, Iris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310980/
https://www.ncbi.nlm.nih.gov/pubmed/30619508
http://dx.doi.org/10.1186/s13039-018-0410-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310980/
https://www.ncbi.nlm.nih.gov/pubmed/30619508
http://dx.doi.org/10.1186/s13039-018-0410-4

Ejemplares similares