Structural chromosomal abnormalities in patients with mental retardation and/or multiple congenital anomalies: A new series of 24 patients

Tos T., Karaman A., Aksoy A., Tukun A.

Genetic Counseling, vol.23, no.2, pp.289-296, 2012 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 2
  • Publication Date: 2012
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.289-296
  • Keywords: Chromosomal abnormality, Mental retardation, Multiple congenital anomaly
  • Ankara University Affiliated: Yes

Abstract

Chromosomal abnormalities are a major cause of mental retardation and/or multiple congenital anomalies (MCA/MR). Screening for these chromosomal imbalances has mainly been done by standard karyotyping. The objective of this study was to report standard chromosome analysis and FISH screening of a series of 24 patients with MCA/MR. Structural chromosomal abnormalities were detected in 24 alterations and included 5 deletions, 2 duplications, 6 unbalanced translocations, 3 inversions, 2 insertions, 3 derivative chromosomes, 2 marker chromosomes and 1 isochromosome. We confirm that a high percentage of MCA/MR cases hitherto considered idiopathic is caused by chromosomal imbalances. We conclude that patients with MCA/MR should be routinely karyotyped.