Duplication of C7orf58, WNT16 and FAM3C in an Obese Female with a t(7;22)(q32.1;q11.2) Chromosomal Translocation and Clinical Features Resembling Coffin-Siris Syndrome

We characterized the t(7;22)(q32;q11.2) chromosomal translocation in an obese female with coarse features, short stature, developmental delay and a hypoplastic fifth digit. While these clinical features suggest Coffin-Siris Syndrome (CSS), we excluded a CSS diagnosis by exome sequencing based on the...

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Detalles Bibliográficos
Autores principales: Zhu, Jun, Qiu, Jun, Magrane, Gregg, Abedalthagafi, Malak, Zanko, Andrea, Golabi, Mahin, Chehab, Farid F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3531478/
https://www.ncbi.nlm.nih.gov/pubmed/23300646
http://dx.doi.org/10.1371/journal.pone.0052353

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3531478/
https://www.ncbi.nlm.nih.gov/pubmed/23300646
http://dx.doi.org/10.1371/journal.pone.0052353

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