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Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome

This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesit...

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Detalles Bibliográficos
Autores principales: Dilzell, Kristen, Darcy, Diana, Sum, John, Wallerstein, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4433680/
https://www.ncbi.nlm.nih.gov/pubmed/26064708
http://dx.doi.org/10.1155/2015/131852