Subtelomeric fish findings in Turkish patients with idiopathic mental retardation
Tos, T.; Vurucu, S.; Karkucak, M.; Kozan, S.; Gul, D.; Akin, R.
Genetic Counseling 24(3): 259-264
2013
ISSN/ISBN: 1015-8146 PMID: 24341139 Document Number: 668633
Subtelomeric rearrangements are the major cause of idiopathic mental retardation (IMR). This study included 67 Turkish children with IMR. Subtelomere fluorescence in situ hybridization (FISH) was used to determine the subtelomeric rearrangements. Submicroscopic subtelomeric deletions were identified in 5 patients, with a detection rate of 7.4%. The deletions involved 5 different subtelomeric regions (1p, 2q, 8p, 9p and 10p). The detection of subtelomeric rearrangements is of great importance in offering genetic counseling and prenatal diagnosis.