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

Abstract

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

Keywords

• Distal 15q trisomy
• prenatal diagnosis
• short limbs