Balkan Journal of Medical Genetics

ARRAY-COMPARATIVE GENOMIC HYBRIDIZATION RESULTS IN CLINICALLY AFFECTED CASES WITH APPARENTLY BALANCED CHROMOSOMAL REARRANGEMENTS
Satkin NB, Karaman B, Ergin S, Kayserili H, Kalelioglu IH, Has R, Yuksel A, Basaran S
*Corresponding Author: Nihan B. Satkin, Ph.D., Department of Medical Genetics, Istanbul University Faculty of Medicine, Millete Street, 34093, Istanbul, Turkey. Tel.: +90-536-561-0313. Fax: +90-212-414-2000. E-mail: bilgenihan@gmail.com
page: 25

INTRODUCTION

Balanced chromosomal rearrangements comprising translocations or inversions with an incidence 0.52% in the general population are structural chromosomal rearrangements without cytogenetically detected imbalances [1]. As conventional karyotyping might not be able to detect the smaller than 5-10 Mb imbalances, some submicroscopic imbalances can be overlooked [2]. These types of rearrangements are called as apparently balanced chromosomal rearrangements (ABCRs) and can be familial or de novo in origin. Warburton [3] determined the risk of phenotypical abnormalities as 6.1% for de novo ABCR translocations and inversions in a large prenatal series. Madan et al. [4] estimated the risk as 23.0% for complex chromosome rearrangements (CCRs), defining structural rearrangements involving more than two breakpoints. Especially, if the ABCR is de novo, it is important to search the submicroscopic genomic imbalances. Not only the cryptic imbalances could affect the phenotype but also other mechanisms, such as impairment of the expression of the gene in its new location (positional effects), disruption of genes at the breakpoints, formation of a new chimeric gene and disruption of the parental imprinting pattern might have a role [5]. The application of chromosomal microarray (CMA) has become an essential tool in routine diagnostics to detect the submicroscopic genomic imbalances for genome-wide screening at kilobase (kb) levels. Chromosomal microarray contributes a 15.0-20.0% detection rate of cryptic chromosomal imbalance in selected patients who have multiple congenital anomalies/intellectual disability (MCA/ID) with normal karyotypes [6,7]. We report here the CMA results of the 34 clinically affected patients (13 prenatal, 21 postnatal) carrying de novo or familial ABCRs of a single center in Turkey. The aim of the study was to add new cases to the literature, to present the rate of submicroscopic genomic imbalances according to different type of chromosomal abnormalities such as translocations, inversions, and CCRs, which are important in genetic counseling, and these findings were combined with published studies to provide the newest integrated insights.

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