PMID- 20112600
OWN - NLM
STAT- MEDLINE
DCOM- 20100226
LR  - 20111117
IS  - 0041-4301 (Print)
IS  - 0041-4301 (Linking)
VI  - 51
IP  - 5
DP  - 2009 Sep-Oct
TI  - Subtelomeric rearrangements of dysmorphic children with idiopathic mental 
      retardation reveal 8 different chromosomal anomalies.
PG  - 453-9
AB  - Subtelomeric rearrangements are an important cause of both sporadic and familial 
      idiopathic mental retardation (MR) and/or congenital malformation syndromes. We 
      report on a cohort of 107 children with idiopathic MR and normal karyotype 
      450-550 band level by GTG banding screened for subtelomeric rearrangements by 
      multiprobe fluorescence in situ hybridization (FISH). In these cases, five 
      patients had de novo deletions (1p deletion was found in 2 cases; 3q deletion, 9p 
      and 9q deletions were found in 1 case each) and four patients had unbalanced 
      rearrangements [der(5)t(5;15)(pter;qter)pat in 2 patients who were siblings, 
      rec(10)dup(10p)inv(10)(p13q26)mat in 1 patient and der(18)t(18;22)(qter;qter) de 
      novo in 1 patient]. Our study confirms that the subtelomeric rearrangements are a 
      significant cause of idiopathic MR with dysmorphic features.
FAU - Mihci, Ercan
AU  - Mihci E
AD  - Division of Clinical Genetics, Department of Pediatrics, Akdeniz University 
      Faculty of Medicine, Antalya, Turkey.
FAU - Ozcan, Mualla
AU  - Ozcan M
FAU - Berker-Karauzum, Sibel
AU  - Berker-Karauzum S
FAU - Keser, Ibrahim
AU  - Keser I
FAU - Tacoy, Sukran
AU  - Tacoy S
FAU - Hapsolat, Senay
AU  - Hapsolat S
FAU - Luleci, Guven
AU  - Luleci G
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Turkey
TA  - Turk J Pediatr
JT  - The Turkish journal of pediatrics
JID - 0417505
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosome Deletion
MH  - Cohort Studies
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Telomere/*genetics
EDAT- 2010/02/02 06:00
MHDA- 2010/02/27 06:00
CRDT- 2010/02/02 06:00
PHST- 2010/02/02 06:00 [entrez]
PHST- 2010/02/02 06:00 [pubmed]
PHST- 2010/02/27 06:00 [medline]
PST - ppublish
SO  - Turk J Pediatr. 2009 Sep-Oct;51(5):453-9.