PMID- 15880643
OWN - NLM
STAT- MEDLINE
DCOM- 20061215
LR  - 20111117
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 25
IP  - 6
DP  - 2005 Jun
TI  - Subtelomeric rearrangements in the mentally retarded: a comparison of detection 
      methods.
PG  - 513-24
AB  - In recent years, subtelomeric rearrangements, e.g., chromosome deletions or 
      duplications too small to be detected by conventional cytogenetic analysis, have 
      emerged as a significant cause of both idiopathic and familial mental 
      retardation. As mental retardation is a common disorder, many patients need to be 
      tested on a routine basis. In this review, we will discuss the different methods 
      that have been applied in laboratories worldwide, including multiprobe 
      fluorescence in situ hybridization (FISH), multiallelic marker analysis, 
      multiplex amplifiable probe hybridization (MAPH), multiplex ligation-dependent 
      probe amplification (MLPA), quantitative real-time PCR, comparative genomic 
      hybridization (CGH), and multicolor FISH, including spectral karyotyping (SKY), 
      subtelomeric combined binary ratio labeling FISH (S-COBRA FISH), multiplex FISH 
      telomere integrity assay (M-TEL), telomeric multiplex FISH (TM-FISH), and primed 
      in situ labeling (PRINS).
FAU - Rooms, Liesbeth
AU  - Rooms L
AD  - Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
FAU - Reyniers, Edwin
AU  - Reyniers E
FAU - Kooy, R Frank
AU  - Kooy RF
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Alleles
MH  - *Chromosome Aberrations
MH  - DNA/genetics
MH  - Genetic Testing/*methods
MH  - Humans
MH  - Intellectual Disability/diagnosis/*genetics
MH  - Nucleic Acid Hybridization
MH  - Telomere/*genetics/*pathology
RF  - 89
EDAT- 2005/05/10 09:00
MHDA- 2006/12/16 09:00
CRDT- 2005/05/10 09:00
PHST- 2005/05/10 09:00 [pubmed]
PHST- 2006/12/16 09:00 [medline]
PHST- 2005/05/10 09:00 [entrez]
AID - 10.1002/humu.20185 [doi]
PST - ppublish
SO  - Hum Mutat. 2005 Jun;25(6):513-24. doi: 10.1002/humu.20185.