Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports

The Wolf-Hirschhorn syndrome (WHS) is a multiple malformation and contiguous gene syndrome resulting from the deletion encompassing a 4p16.3 region. A microscopically visible terminal deletion on chromosome 4p (4p16→pter) was detected in Case 1 with full blown features of WHS. The second case which...

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Detalles Bibliográficos
Autores principales: Sheth, F., Akinde, O. R., Datar, C., Adeteye, O. V., Sheth, J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512217/
https://www.ncbi.nlm.nih.gov/pubmed/23227376
http://dx.doi.org/10.1155/2012/878796

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512217/
https://www.ncbi.nlm.nih.gov/pubmed/23227376
http://dx.doi.org/10.1155/2012/878796

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