Multiplex ligation-dependent probe amplification to subtelomeric rearrangements in idiopathic intellectual disability in Colombia.

@article{Medina2014MultiplexLP,
  title={Multiplex ligation-dependent probe amplification to subtelomeric rearrangements in idiopathic intellectual disability in Colombia.},
  author={Adalbeis Medina and Lorena Pi{\~n}eros and Clara Arteaga and Harvy Mauricio Velasco and Alvaro Izquierdo and Alejandro Giraldo and Eugenia Espinosa},
  journal={Pediatric neurology},
  year={2014},
  volume={50 3},
  pages={250-4}
}
BACKGROUND A cause cannot be determined in 30% to 50% of patients with intellectual disability. Determining the etiology of intellectual disability is important and useful for pediatric neurologists, geneticists, pediatricians, and patients' families because it allows assessment of recurrence risk, appropriate genetic counseling, and focus on treatment options and prognosis. This study aims to determine the prevalence, origin, and characterization of subtelomeric rearrangements through the… CONTINUE READING
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