An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations

A prenatal case of a de novo interstitial deletion distal to 8q24 was reported. Ultrasound examination and postmortem evaluation demonstrated no apparent phenotypic alterations. Array CGH showed an 11.4-Mb loss in chromosome 8 ranging from 8q24.13 to 8q24.23. This case partially overlaps the 2 cases...

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Detalles Bibliográficos
Publicado en:Mol Syndromol
Main Authors: Guanciali-Franchi, Paolo, Celentano, Claudio, Alfonsi, Melissa, Palka, Chiara, Di Pasqua, Giulietta, Matarrelli, Barbara, Palka, Giandomenico
Formato: Artigo
Idioma:Inglês
Publicado: S. Karger AG 2017
Assuntos:
Short Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5260537/
https://ncbi.nlm.nih.gov/pubmed/28232782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000452967
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