A Homozygous 1.16 Megabases Microdeletion at 8p22 Including The Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay


Evren Gumus, M.D, 1,2,*
Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa, Turkey
Department of Medical Genetics, Faculty of Medicine, University of Mugla Sitki Kocman, Mugla, Turkey
Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa, Turkey
Department of Medical Genetics, Faculty of Medicine, University of Mugla Sitki Kocman, Mugla, Turkey
*Corresponding Address: Department of Medical Genetics Faculty of Medicine University of Harran Sanliurfa Turkey Email:evreng@harran.edu.tr
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Abstract

Intellectual disability (ID) is defined as an intelligence quotient (IQ) level below than 70. In the present paper, a 1.16 megabases (Mb) homozygous deletion in the 8p22 region was identified in a three years old girl with ID, speech and developmental delays. This is the first report from Turkey with this form of ID. The present paper demonstrates that application of microarray technique to help clinicians, especially when clinical diagnosis includes a complex group of disorders (such as ID) and differential diagnostic list is broad.