A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms

We report two unrelated patients with overlapping chromosome 2q13 deletions (patient 1 in chr2:111415137-113194067 bp and patient 2 in chr2:110980342-113007823 bp, hg 19). Patient 1 presents with developmental delay, microcephaly and mild dysmorphic facial features, and patient 2 with autism spectru...

Descripción completa

Detalles Bibliográficos
Autores principales: Hladilkova, Eva, Barøy, Tuva, Fannemel, Madeleine, Vallova, Vladimira, Misceo, Doriana, Bryn, Vesna, Slamova, Iva, Prasilova, Sarka, Kuglik, Petr, Frengen, Eirik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521466/
https://www.ncbi.nlm.nih.gov/pubmed/26236398
http://dx.doi.org/10.1186/s13039-015-0157-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521466/
https://www.ncbi.nlm.nih.gov/pubmed/26236398
http://dx.doi.org/10.1186/s13039-015-0157-0

Ejemplares similares