A Case With Duplication 2q

Abstract

We report here a 5-year-old boy who referred to us from pediatricneurology clinic due to developmental delay and mildretardation. . The physical examination revealed dysmorphicfindings like; small dysplastic teeth, low set ears with big pinnae,straight and long philtrum, distal phalanx hypoplasia,webbing between phalanges and dry skin with cutis marmoratus.The cranial MRI revealed; unilateral enlargement of lateralventricle. The Giemsa stained karyotyping by highresolution banding technique and also FISH analysis showed46,XY,add(2)(q35)ish dup(2)(q35-q36?)(wcp2+) chromosomeconstitution de novo. 44K array by CytoSure Analysis wasperformed for further investigation of the breakpoints. A15.566 Mb long gain between 2q33.3 and 2q36.1 weredetected. The genotype phenotype correlations will be discussedin this report.