Prader-Willi syndrome due to an unbalanced de novo translocation [t(15;19)(q12;p13.3)]

BACKGROUND AND AIMS: Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic and behavioral abnormalities. We report the first case of an unbalanced de-novo reciprocal translocation of chromosome 15 and 19: 45,XY,-15, der (19)t(15;19)(q12;p13.3)...

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Bibliografske podrobnosti
izdano v:Cytogenet Genome Res
Main Authors: Dang, Vy, Surampalli, Abhilasha, Manzardo, Ann M, Youn, Stephanie, Butler, Merlin G, Gold, June-Anne, Kimonis, Virginia
Format: Artigo
Jezik:Inglês
Izdano: 2016
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5812461/
https://ncbi.nlm.nih.gov/pubmed/27894106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000452611
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