PMID- 11528111
OWN - NLM
STAT- MEDLINE
DCOM- 20011004
LR  - 20220331
IS  - 0301-0171 (Print)
IS  - 0301-0171 (Linking)
VI  - 93
IP  - 3-4
DP  - 2001
TI  - Comparative genomic hybridization based strategy for the analysis of different 
      chromosome imbalances detected in conventional cytogenetic diagnostics.
PG  - 188-94
AB  - Today, conventional cytogenetics (CC) is the main technique in routine genetic 
      diagnostics for the analysis of genotype/phenotype correlations. Additionally, 
      fluorescence in situ hybridization (FISH) has proven to be useful for the 
      characterization of structural chromosome aberrations found in conventional 
      cytogenetics. Comparative genomic hybridization (CGH) is a molecular cytogenetic 
      FISH approach developed for the detection of genomic imbalances with cytogenetic 
      resolution. CGH allows the genome-wide assessment of relative DNA copy number 
      changes using extracted specimen DNA as a probe. We investigated the capacity of 
      CGH in cases referred for conventional cytogenetic diagnostics for the detection 
      of chromosome imbalances. Three different groups of conspicuous karyotypes after 
      CC (intrachromosomal rearrangements, interchromosomal rearrangements, and 
      additional marker chromosomes) in pre- and postnatal diagnostic cases were 
      surveyed by CGH to characterize the underlying imbalances of chromosome segments. 
      All together, we investigated more than 100 cases by CGH and validated the 
      results with other molecular cytogenetic methods. Here we present eight of these 
      cases in order to demonstrate our CGH based strategy to analyze chromosomal de 
      novo rearrangements. CGH provided additional cytogenetic information to 
      complement conventional cytogenetic investigations. Additionally, CGH refined the 
      description of the aberrant chromosome segments allowing us to further 
      characterize the underlying mechanisms involved.
CI  - Copyright 2001 S. Karger AG, Basel
FAU - Tonnies, H
AU  - Tonnies H
AD  - Department of Human Genetics, Charite, Campus Virchow, Humboldt-University, 
      Berlin, Germany. Holger.Toennies@charite.de
FAU - Stumm, M
AU  - Stumm M
FAU - Wegner, R D
AU  - Wegner RD
FAU - Chudoba, I
AU  - Chudoba I
FAU - Kalscheuer, V
AU  - Kalscheuer V
FAU - Neitzel, H
AU  - Neitzel H
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Cytogenet Cell Genet
JT  - Cytogenetics and cell genetics
JID - 0367735
SB  - IM
MH  - Chromosome Aberrations/*genetics
MH  - Chromosome Banding
MH  - Chromosomes, Artificial, Yeast
MH  - Cytogenetic Analysis/*methods
MH  - *Genome
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Nucleic Acid Hybridization
MH  - Reproducibility of Results
MH  - Sensitivity and Specificity
MH  - Telomere/genetics
EDAT- 2001/08/31 10:00
MHDA- 2001/10/05 10:01
CRDT- 2001/08/31 10:00
PHST- 2001/08/31 10:00 [pubmed]
PHST- 2001/10/05 10:01 [medline]
PHST- 2001/08/31 10:00 [entrez]
AID - 56983 [pii]
AID - 10.1159/000056983 [doi]
PST - ppublish
SO  - Cytogenet Cell Genet. 2001;93(3-4):188-94. doi: 10.1159/000056983.