Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation

BACKGROUND: Prader-Willi syndrome, due to microdeletion of proximal 15q, is a well-known cause of syndromic obesity. CASE CHARACTERISTICS: A couple with history of repeated first trimester abortions had a son with balanced Robertsonian translocation of chromosomes 13 and 15 according to cytogenetic...

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Detalles Bibliográficos
Autores principales: Sheth, Frenny, Liehr, Thomas, Shah, Krati, Sheth, Jayesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510909/
https://www.ncbi.nlm.nih.gov/pubmed/26203302
http://dx.doi.org/10.1186/s13039-015-0163-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510909/
https://www.ncbi.nlm.nih.gov/pubmed/26203302
http://dx.doi.org/10.1186/s13039-015-0163-2

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