Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with devel...

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Detalles Bibliográficos
Autores principales: Wong, D., Johnson, S. M., Young, D., Iwamoto, L., Sood, S., Slavin, T. P.
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/PMC3707229/
https://www.ncbi.nlm.nih.gov/pubmed/23864968
http://dx.doi.org/10.1155/2013/801094

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3707229/
https://www.ncbi.nlm.nih.gov/pubmed/23864968
http://dx.doi.org/10.1155/2013/801094

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