The Turkish Journal of Pediatrics
2009 , Vol 51 , Num 3
Subtelomeric Rearrangements in Mental Retardation: Hacettepe University
Clinical Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey1,
Recent reports have revealed the presence of subtelomeric rearrangements in
0.5-1.1% of patients with mild mental retardation and in 6.8-7.4% of patients
with moderate-severe mental retardation. In the present study, 130 patients
with unexplained mental retardation were tested using fluorescence in situ
hybridization (FISH) analysis for the first time in a large group of Turkish
patients, in order to determine the frequency of subtelomeric rearrangements.
Three patients had such rearrangements. We present the clinical findings
in these patients with (1) coexistent 9p subtelomeric monosomy and 4q
subtelomeric trisomy, (2) 22q13.3 subtelomeric monosomy, and (3) coexistent
4p subtelomeric monosomy and 8p subtelomeric trisomy. Mild retardation
without dysmorphic features in one of these patients suggests offering
subtelomeric analysis to a wide spectrum of mental retardation.
Keywords :
mental retardation, subtelomeric rearrangement, fluorescence in situ hybridization, pediatric.