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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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| Pubblicato in: | Cytogenet Genome Res |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2016
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| Soggetti: | |
| Accesso online: | 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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