Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13

Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as microcephaly, seizures, and a characteristic electroencephalogram (EEG). The majo...

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Main Authors: Sánchez, Javier, Peciña, Ana, Alonso-Luengo, Olga, González-Meneses, Antonio, Vázquez, Rocío, Antiñolo, Guillermo, Borrego, Salud
格式: Artigo
語言:Inglês
出版: Hindawi Publishing Corporation 2014
主題:
Case Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4212645/
https://ncbi.nlm.nih.gov/pubmed/25379297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/517091
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