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

Paolo Guanciali-Franchi; Claudio Celentano; Melissa Alfonsi; Chiara Palka; Giulietta Di Pasqua; Barbara Matarrelli; Giandomenico Palka

doi:10.1159/000452967

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

Mol Syndromol. 2017 Jan;8(1):42-44. doi: 10.1159/000452967. Epub 2016 Dec 3.

Authors

Paolo Guanciali-Franchi¹, Claudio Celentano², Melissa Alfonsi¹, Chiara Palka³, Giulietta Di Pasqua¹, Barbara Matarrelli², Giandomenico Palka¹

Affiliations

¹ Department of Medical Genetics, SS Annunziata Hospital, Chieti, Italy; Department of Medical Genetics, University G. D'Annunzio Chieti-Pescara, Chieti, Italy.
² Department of Obstetrics and Gynecology, SS Annunziata Hospital, Chieti, Italy.
³ Department of Pediatrics, University G. D'Annunzio Chieti-Pescara, Chieti, Italy.

Abstract

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 previously described in the literature.

Keywords: Array CGH; Chromosome 8; Interstitial deletion.