Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes

We report on three patients with interstitial deletions of the long arm of chromosome 2 involving bands 2q32.1–q35. They presented with wide-ranging phenotypic variation including facial dysmorphisms, cleft palate, learning difficulties, behavioural issues and severe heart defects. Microarray analys...

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Detalles Bibliográficos
Autores principales: Mc Cormack, Adrian, Taylor, Juliet, Gregersen, Nerine, George, Alice M., Love, Donald R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3690635/
https://www.ncbi.nlm.nih.gov/pubmed/23840981
http://dx.doi.org/10.1155/2013/823451

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3690635/
https://www.ncbi.nlm.nih.gov/pubmed/23840981
http://dx.doi.org/10.1155/2013/823451

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