Balkan Journal of Medical Genetics

RARE CASE OF A HETEROZYGOUS MICRODELETION 9q21.11-q21.2: CLINICAL AND GENETIC CHARACTERISTICS
Ivanov HY, Stoyanova V, Ivanov I, Linev A, Vazharova R, Ivanov S, Balabanski L, Toncheva D
*Corresponding Author: Dr. Hristo Y. Ivanov, Department of Pediatrics and Medical Genetics, Medical University Plovdiv, Vasil Aprilov 15-A Str., Plovdiv 4002, Bulgaria. Tel: +359-884-827-070. Fax: +359-326-022-338. E-mail: doctorhristoivanov@yahoo.com
page: 59

INTRODUCTION

Copy number variants (CNVs) are a significant cause leading to neurodevelopmental disorders such as intellectual disability, epilepsy, autism spectrum disorders and developmental delay. Up to 3.0-4.0% of the general population is affected by intellectual disability, which makes it one of the most common neurological disorders [1]. Intellectual disability has been observed in patients carrying chromosomal aberrations or gene mutations. Boudry-Labis et al. [2] proposed a novel microdeletion syndrome, involving a deletion at 9q21.13 and presenting with intellectual disability, speech delay, epilepsy, and characteristic facial features. They have reported 13 patients [2]. The range of the deletion spanned from 2.2 to 12.6 Mb and included a different number of genes. Here, we report a girl with mild intellectual disability, speech delay and mild facial dysmorphism with 9q21.11-q21.2 microdeletion of about 9655 Mb in size.

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