PMID- 15050874
OWN - NLM
STAT- MEDLINE
DCOM- 20041223
LR  - 20111117
IS  - 0003-3995 (Print)
IS  - 0003-3995 (Linking)
VI  - 47
IP  - 1
DP  - 2004 Jan-Mar
TI  - Screening for subtelomeric rearrangements using genetic markers in 70 patients 
      with unexplained mental retardation.
PG  - 53-9
AB  - Cryptic unbalanced rearrangements involving chromosome ends are a significant 
      cause of idiopathic mental retardation. The most frequently used technique to 
      screen for these subtle rearrangements is Multiprobe fluorescence in situ 
      hybridization (FISH). As this is a labor-intensive technique, we used 
      microsatellite genotyping to detect possible subtelomeric rearrangements in a 
      study population. Out of the 70 patients we screened, three chromosomal 
      rearrangements were detected: a deletion of marker D2S2986, a deletion of marker 
      D7S594 and a deletion of marker D19S424. However, none of these aberrations 
      appeared to be disease causing.
FAU - Rooms, Liesbeth
AU  - Rooms L
AD  - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 
      Antwerp, Belgium.
FAU - Reyniers, Edwin
AU  - Reyniers E
FAU - van Luijk, Rob
AU  - van Luijk R
FAU - Scheers, Stefan
AU  - Scheers S
FAU - Wauters, Jan
AU  - Wauters J
FAU - Kooy, R Frank
AU  - Kooy RF
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - Ann Genet
JT  - Annales de genetique
JID - 0370562
RN  - 0 (Genetic Markers)
SB  - IM
MH  - *Chromosome Aberrations
MH  - *Genetic Markers
MH  - *Genetic Testing
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Microsatellite Repeats
MH  - Polymorphism, Genetic
MH  - *Telomere
EDAT- 2004/03/31 05:00
MHDA- 2004/12/24 09:00
CRDT- 2004/03/31 05:00
PHST- 2004/03/31 05:00 [pubmed]
PHST- 2004/12/24 09:00 [medline]
PHST- 2004/03/31 05:00 [entrez]
AID - S0003399503000753 [pii]
AID - 10.1016/j.anngen.2003.10.001 [doi]
PST - ppublish
SO  - Ann Genet. 2004 Jan-Mar;47(1):53-9. doi: 10.1016/j.anngen.2003.10.001.