Balkan Journal of Medical Genetics

A NOVEL DE NOVO PARACENTRIC INVERSION [inv(20)(q13.1q13.3)] ACCOMPANIED BY AN 11q14.3-q21 MICRODELETION IN A PEDIATRIC PATIENT WITH AN INTELLECTUAL DISABILITY
Zachaki S, Kouvidi E, Mitrakos A, Lazaros L, Pantou A, Mavrou A, Tzetis M, Manola KN
*Corresponding Author: Dr. Sophia Zachaki, Genesis Genoma Lab, Kifisias Avenue 302, Chalandri, 15232, Athens, Greece. Tel.: +30-210-6803130. Fax: +30-210-6894778. E-mail: szachaki@genlab.gr
page: 63

INTRODUCTION

Paracentric inversion (PAI) is a common rearrangement that involves two breaks within the same chromosome arm, followed by the reinsertion of the chromosome segment into its original location after a 180° rotation. The incidence of PAIs in the general population has not been clearly established but seems to range from 0.1 to 0.5% [1,2]. Although PAIs are generally considered to be harmless with no phenotypic consequences, an abnormal phenotype has been described in cases where microduplications/ microdeletions occur, or critical genes have been interrupted at the breakpoints [3-5]. Paracentric inversions can only be detected by conventional cytogenetic analysis. However, submicroscopic chromosomal imbalances at breakpoint junctions of the inverted segment can be unveiled using molecular cytogenetic techniques, such as array comparative genomic hybridization (aCGH). In this report we present a novel de novo PAI on the long arm of chromosome 20 [inv(20)(q13.1q13.3)], detected by conventional karyotyping in a 14-year-old boy with mental retardation, which was further investigated for other submicroscopic imbalances using aCGH.

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