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Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects
We report a 20 year follow up on a Caucasian female, now 26 years of age, with Prader-Willi syndrome (PWS) harboring an atypical 15q11-q13 submicroscopic deletion of 100–200 kb in size first detected in 1996 involving the imprinting center, SNRPN gene and surrounding region. PWS is a rare complex di...
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| Pubblicato in: | Eur J Med Genet |
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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/PMC6688621/ https://ncbi.nlm.nih.gov/pubmed/27659713 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2016.09.017 |
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