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A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs) have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous reco...

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Detalles Bibliográficos
Autores principales: Mc Cormack, Adrian, Taylor, Juliet, Te Weehi, Leah, Love, Donald R., George, Alice M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932285/
https://www.ncbi.nlm.nih.gov/pubmed/24649381
http://dx.doi.org/10.1155/2014/658570