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Kirchhoff, M., Bisgaard, A.M., Bryndorf, T. and Gerdes, T. (2007) MLPA Analysis for a Panel of Syndromes with Mental Retardation Reveals Imbalances in 5.8% of Patients with Mental Retardation and Dysmorphic Features, Including Duplications of the Sotos Syndrome and Williams—Beuren Syndrome Regions. European Journal of Medical Genetics, 50, 33-42.
https://doi.org/10.1016/j.ejmg.2006.10.002

has been cited by the following article:

• TITLE: A Study of Radiation-Induced Instability for the Gene Locus Associated with Intellectual Disorders or Developmental Delays

  AUTHORS: Alan Chant, Ahmad Chaudary, Christina M. Kraemer-Chant

  KEYWORDS: Ionizing Radiation, Multiplex Ligation-Dependent Probe Amplification (MLPA), Intellectual Disability (ID), Developmental Delay (DD), p53 Tumor Suppressor

  JOURNAL NAME: Advances in Biological Chemistry, Vol.13 No.4, August 4, 2023

  ABSTRACT: Multiplex Ligation-Dependent Probe Amplification (MLPA) was used to study the integrity of the chromosomes for two WIL2-derived lymphoblastoid cell lines (TK6 and WTK1) in the presence and absence of ionizing radiation. WTK1 cells contain a p53 mutation, whereas the TK6 cell line has the native p53 tumor-suppressor gene. Each cell line was isolated pre- and post-irradiation (2 and 3 Gy) and analyzed by MLPA. Using probes that target specific regions on chromosomes associated with a distinct subset of microdeletions and microduplications either established or thought to be responsible for intellectual disability or developmental delay, we have demonstrated that WTK1 and TK6 are not impacted in the same way by irradiation. Instead, each cell line presents its own unique MLPA profile. The most notable differences are the appearance of nine unique probe signals only seen in WTK1 cells. These results are important in the study of how different cell lines can be affected in significantly different ways depending on the presence or absence of wild type p53.