Chromosomal abnormalities in 457 Turkish patients with MCA/MR

Turk J Pediatr. 2006 Apr-Jun;48(2):130-4.


The evaluation of multiple congenital abnormalities and/or mental retardation (MCA/MR) is always a challenge to clinicians. The recognition of specific physical or behavioral characteristics can vastly improve diagnostic yield. Chromosomal abnormalities account for a high percentage in the etiology of MCA/MR. In this study, frequency of chromosomal abnormalities was 4.81% of 457 patients. Chromosomal abnormalities and polymorphisms were detected in 65 (14.21%) (structural and numerical chromosomal abnormalities in 22 patients and polymorphisms in 43) of 457 MR and/or MCA patients. Our results show that chromosomal abnormalities contribute much to the causation of multiple malformations and/or MR. It is essential that fluorescence in situ hybridization (FISH) be used in conjunction with standard methods in order to maximize obtainable information for better management of patients with MR and/or MCA.

MeSH terms

  • Abnormalities, Multiple / epidemiology*
  • Abnormalities, Multiple / genetics*
  • Chromosome Aberrations*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Incidence
  • Intellectual Disability / epidemiology*
  • Intellectual Disability / genetics*
  • Male
  • Polymorphism, Genetic*
  • Turkey / epidemiology