16p subtelomeric duplication: a clinically recognizable syndrome

We report on two patients with duplication of the subterminal region of chromosome 16p (dup16p) recognized by fluorescent in situ hybridization (FISH) telomere analysis, presenting with closely overlapping facial features and neurological impairment. Distinct facial anomalies included high forehead,...

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Main Authors: Digilio, Maria Cristina, Bernardini, Laura, Capalbo, Anna, Capolino, Rossella, Gagliardi, Maria Giulia, Marino, Bruno, Novelli, Antonio, Dallapiccola, Bruno
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2009
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986590/
https://ncbi.nlm.nih.gov/pubmed/19293839
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.14
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