Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up

BACKGROUND: Copy number variations at 2p11.2 have been rare and to our knowledge, no abnormal phenotype with an interstitial 2p11.2 duplication has yet been reported. Here we report the first case with syndromic intellectual disability associated with microduplication at 2p11.2. RESULTS: We revisite...

Descripción completa

Detalles Bibliográficos
Autores principales: Jun, Kyung Ran, Ullmann, Reinhard, Khan, Saadullah, Layman, Lawrence C, Kim, Hyung-Goo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188067/
https://www.ncbi.nlm.nih.gov/pubmed/25295072
http://dx.doi.org/10.1186/1755-8166-7-52

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188067/
https://www.ncbi.nlm.nih.gov/pubmed/25295072
http://dx.doi.org/10.1186/1755-8166-7-52

Ejemplares similares