PMID- 24341139
OWN - NLM
STAT- MEDLINE
DCOM- 20140117
LR  - 20131217
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 24
IP  - 3
DP  - 2013
TI  - Subtelomeric fish findings in Turkish patients with idiopathic mental 
      retardation.
PG  - 259-64
AB  - 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.
FAU - Tos, T
AU  - Tos T
AD  - Department of Medical Genetics, Dr. Sami Ulus Children's Health and Diseases 
      Training and Research Hospital, Ankara, Turkey. tulaytos@hotmail.com
FAU - Vurucu, S
AU  - Vurucu S
AD  - Department of Pediatric Neurology, Gulhane Military Medical Academy and Medical 
      Faculty, Ankara, Turkey.
FAU - Karkucak, M
AU  - Karkucak M
AD  - Department of Medical Genetics, Sakarya University Education and Research 
      Hospital, Sakarya, Turkey.
FAU - Kozan, S
AU  - Kozan S
AD  - Department of Medical Genetics, Gulhane Military Medical Academy and Medical 
      Faculty, Ankara, Turkey.
FAU - Gul, D
AU  - Gul D
AD  - Department of Medical Genetics, Gulhane Military Medical Academy and Medical 
      Faculty, Ankara, Turkey.
FAU - Akin, R
AU  - Akin R
AD  - Department of Pediatric Neurology, Gulhane Military Medical Academy and Medical 
      Faculty, Ankara, Turkey.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
RN  - 10p Deletion Syndrome (Partial)
RN  - Chromosome 1, monosomy 1p
RN  - Chromosome 2, monosomy 2q
RN  - Chromosome 8, monosomy 8p
RN  - Chromosome 9p Deletion Syndrome
SB  - IM
MH  - Chromosome Deletion
MH  - Chromosome Disorders
MH  - Chromosomes, Human, Pair 1
MH  - Chromosomes, Human, Pair 10
MH  - Chromosomes, Human, Pair 2
MH  - Chromosomes, Human, Pair 8
MH  - Chromosomes, Human, Pair 9
MH  - Female
MH  - Gene Rearrangement/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Intellectual Disability/blood/*genetics
MH  - Karyotyping/methods
MH  - Male
MH  - Monosomy/*genetics
MH  - Telomere/genetics
MH  - Turkey
EDAT- 2013/12/18 06:00
MHDA- 2014/01/18 06:00
CRDT- 2013/12/18 06:00
PHST- 2013/12/18 06:00 [entrez]
PHST- 2013/12/18 06:00 [pubmed]
PHST- 2014/01/18 06:00 [medline]
PST - ppublish
SO  - Genet Couns. 2013;24(3):259-64.