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An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms
We report a case of an interstitial chromosome 20q11.21 microdeletion in a 7-year-old male child presenting with mild intellectual disability and facial dysmorphisms. Array comparative genomic hybridization (CGH) has shown that the deletion resulted in the loss of 68 genes, among which 5 genes (COX4...
Autores principales: | Iourov, Ivan Y., Vorsanova, Svetlana G., Kurinnaia, Oxana S., Yurov, Yuri B. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3586477/ https://www.ncbi.nlm.nih.gov/pubmed/23476833 http://dx.doi.org/10.1155/2013/353028 |
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