A Homozygous 1.16 Megabases Microdeletion at 8p22 Including
The Whole TUSC3 in A Three Years Old Girl with Intellectual
Disability and Speech Delay
Gumus E. A homozygous 1.16 megabases microdeletion at 8p22 including the whole TUSC3 in a three years old girl with intellectual disability and speech delay. Cell J. 2020; 22(1): 128-132. doi: 10.22074/cellj.2020.6606.
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.