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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Détails bibliographiques
Publié dans:Mol Cytogenet
Auteurs principaux: Sheth, Frenny, Liehr, Thomas, Shah, Krati, Sheth, Jayesh
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2015
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4510909/
https://ncbi.nlm.nih.gov/pubmed/26203302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0163-2
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