PMID- 19817261
OWN - NLM
STAT- MEDLINE
DCOM- 20091029
LR  - 20111117
IS  - 0041-4301 (Print)
IS  - 0041-4301 (Linking)
VI  - 51
IP  - 3
DP  - 2009 May-Jun
TI  - Subtelomeric rearrangements in mental retardation: Hacettepe University 
      experience in 130 patients.
PG  - 199-206
AB  - 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.
FAU - Utine, Gulen Eda
AU  - Utine GE
AD  - Clinical Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of 
      Medicine, Ankara, Turkey.
FAU - Celik, Tolga
AU  - Celik T
FAU - Alanay, Yasemin
AU  - Alanay Y
FAU - Alikasifoglu, Mehmet
AU  - Alikasifoglu M
FAU - Boduroglu, Koray
AU  - Boduroglu K
FAU - Tuncbilek, Ergul
AU  - Tuncbilek E
FAU - Aktas, Dilek
AU  - Aktas D
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Turkey
TA  - Turk J Pediatr
JT  - The Turkish journal of pediatrics
JID - 0417505
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 4/genetics
MH  - Chromosomes, Human, Pair 9/genetics
MH  - Female
MH  - Hospitals, University
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - *Monosomy
MH  - Telomere/*genetics
MH  - *Trisomy
MH  - Turkey
EDAT- 2009/10/13 06:00
MHDA- 2009/10/30 06:00
CRDT- 2009/10/13 06:00
PHST- 2009/10/13 06:00 [entrez]
PHST- 2009/10/13 06:00 [pubmed]
PHST- 2009/10/30 06:00 [medline]
PST - ppublish
SO  - Turk J Pediatr. 2009 May-Jun;51(3):199-206.