Microduplication of 3p26.3 Implicated in Cognitive Development

We report here a 34-month-old boy with global developmental delay referred for molecular karyotyping and fragile X studies. Molecular karyotype analysis revealed a microduplication in the 3p26.3 region involving part of the CHL1 and CNTN6 genes. Several deletions, one translocation, and one duplicat...

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Hlavní autoři: Te Weehi, Leah, Maikoo, Raj, Mc Cormack, Adrian, Mazzaschi, Roberto, Ashton, Fern, Zhang, Liangtao, George, Alice M., Love, Donald R.
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2014
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3978399/
https://ncbi.nlm.nih.gov/pubmed/24778888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/295359
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