PMID- 16207207
OWN - NLM
STAT- MEDLINE
DCOM- 20051213
LR  - 20111117
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 68
IP  - 5
DP  - 2005 Nov
TI  - Subtelomeric chromosome aberrations: still a lot to learn.
PG  - 397-407
AB  - Subtelomeric chromosome aberrations: still a lot to learn.Cryptic subtelomeric 
      chromosome aberrations are a significant cause of mental retardation (MR). More 
      than 4000 patients have been investigated, and the mean overall prevalence of 
      subtelomeric rearrangements has been found to be 5.2%. In order to contribute to 
      knowledge on the clinical presentation of subtelomeric rearrangements, we 
      retrospectively studied patients with unexplained MR who had been evaluated for 
      subtelomeric abnormalities by different fluorescence in situ hybridization (FISH) 
      techniques. Hundred and two patients had an unexplained combination of MR with 
      dysmorphism, congenital anomalies, and/or a positive family history and were 
      investigated by total subtelomeric (TS) FISH (89/102), or by total painting (TP) 
      in an obligate carrier in the case of familial MR (13/102). In 59 additional 
      patients, a sequence-specific FISH was performed on clinical indication. In the 
      102 patients studied by TS or TP, six pathogenic aberrations (5.9%) were found in 
      addition to one polymorphism. In total, eight clinically significant subtelomeric 
      aberrations were found in the 161 index patients; four of these eight aberrations 
      were familial. We report on the clinical presentation of all patients with an 
      aberration and review the relevant literature. Factors complicating the 
      interpretation of subtelomeric rearrangements are discussed, such as the 
      occurrence of variants, clinical variability, and limited knowledge of the 
      phenotype.
FAU - Moog, U
AU  - Moog U
AD  - Department of Clinical Genetics, University Hospital Maastricht, the Netherlands. 
      yte.moog@gen.unimaas.nl
FAU - Arens, Y H J M
AU  - Arens YH
FAU - van Lent-Albrechts, J C M
AU  - van Lent-Albrechts JC
FAU - Huijts, P E A
AU  - Huijts PE
FAU - Smeets, E E J
AU  - Smeets EE
FAU - Schrander-Stumpel, C T R M
AU  - Schrander-Stumpel CT
FAU - Engelen, J J M
AU  - Engelen JJ
LA  - eng
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
EIN - Clin Genet. 2006 Apr;69(4):370
MH  - *Chromosome Aberrations
MH  - Chromosome Deletion
MH  - Chromosome Disorders/diagnosis/genetics
MH  - Female
MH  - Gene Duplication
MH  - Genetic Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Phenotype
MH  - Retrospective Studies
MH  - Telomere/genetics
MH  - Translocation, Genetic
MH  - Trisomy
EDAT- 2005/10/07 09:00
MHDA- 2005/12/15 09:00
CRDT- 2005/10/07 09:00
PHST- 2005/10/07 09:00 [pubmed]
PHST- 2005/12/15 09:00 [medline]
PHST- 2005/10/07 09:00 [entrez]
AID - CGE506 [pii]
AID - 10.1111/j.1399-0004.2005.00506.x [doi]
PST - ppublish
SO  - Clin Genet. 2005 Nov;68(5):397-407. doi: 10.1111/j.1399-0004.2005.00506.x.