Title of article :
A Homozygous 1.16 Megabases Microdeletion at 8p22 Including The Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay
Author/Authors :
Gumus ، Evren - University of Harran
Pages :
5
From page :
128
To page :
132
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.
Keywords :
Deletion , Intellectual Disability , Microarray , TUSC3
Journal title :
Cell Journal(Yakhteh)
Serial Year :
2020
Journal title :
Cell Journal(Yakhteh)
Record number :
2456645
Link To Document :
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