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...

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Detalles Bibliográficos
Autores principales: Iourov, Ivan Y., Vorsanova, Svetlana G., Kurinnaia, Oxana S., Yurov, Yuri B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
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

Internet

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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