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Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1

Authors Ochando I, Alonzo Martínez MC, Serrano AM, Urbano A, Cazorla E, Calvo D, Rueda J

Received 9 December 2017

Accepted for publication 15 March 2018

Published 3 July 2018 Volume 2018:11 Pages 77—80


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Martin H. Maurer

Isabel Ochando,1,2 Melanie Cristine Alonzo Martínez,3 Ana María Serrano,3 Antonio Urbano,1 Eduardo Cazorla,3 Dolores Calvo,4 Joaquín Rueda1,2

1Genetics Unit, Unidad de Genética, Hospital Clínica Vistahermosa, Alicante, Spain; 2Departamento de Histología y Anatomía, Universidad Miguel Hernández, Alicante, Spain; 3Department of Obstetrics and Gynecology, Servicio de Ginecología y Obstetricia, Hospital Universitario de Torrevieja, Alicante, Spain; 4Emergency Laboratory, Laboratorio Urgencias, Hospital Clínico Universitario, Valladolid, Spain

Abstract: Reported cases of distal 15q interstitial duplications are uncommon and do not result in a recognizable pattern of abnormalities. Some studies report prenatal overgrowth, while others describe growth retardation. We present molecular cytogenetic characterization of a 14 Mb interstitial duplication, encompassing 81 Online Mendelian Inheritance in Man (OMIM) genes, in a fetus with single umbilical artery and short limbs. We propose that growth restriction, previously described and present in our patient, may be due to duplication of a gene or genes contained in the 15q24 region.

Keywords: distal 15q trisomy, prenatal diagnosis, short limbs

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