De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism

A 10-year-old boy was referred with developmental delay and dysmorphism. Genomewide aCGH microarray analysis detected a de novo 3.7 Mb deletion at 1q32.1: arr 1q32.1(199,985,888-203,690,832)x1 dn [build HG19]. This first report of a deletion in this region implies a critical role for dosage-sensitiv...

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Detalles Bibliográficos
Autores principales: Carter, Jennifer, Zombor, Melinda, Máté, Adrienn, Sztriha, László, Waters, Jonathan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756132/
https://www.ncbi.nlm.nih.gov/pubmed/26955491
http://dx.doi.org/10.1155/2016/2501741

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756132/
https://www.ncbi.nlm.nih.gov/pubmed/26955491
http://dx.doi.org/10.1155/2016/2501741

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