• 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