PMID- 8262510
OWN - NLM
STAT- MEDLINE
DCOM- 19940121
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 92
IP  - 6
DP  - 1993 Dec
TI  - A strategy for the characterization of minute chromosome rearrangements using 
      multiple color fluorescence in situ hybridization with chromosome-specific DNA 
      libraries and YAC clones.
PG  - 527-32
AB  - The identification of marker chromosomes in clinical and tumor cytogenetics by 
      chromosome banding analysis can create problems. In this study, we present a 
      strategy to define minute chromosomal rearrangements by multicolor fluorescence 
      in situ hybridization (FISH) with "whole chromosome painting" probes derived from 
      chromosome-specific DNA libraries and Alu-polymerase chain reaction (PCR) 
      products of various region-specific yeast artificial chromosome (YAC) clones. To 
      demonstrate the usefulness of this strategy for the characterization of 
      chromosome rearrangements unidentifiable by banding techniques, an 8p+ marker 
      chromosome with two extra bands present in the karyotype of a child with multiple 
      anomalies, malformations, and severe mental retardation was investigated. A 
      series of seven-color FISH experiments with sets of fluorochrome-labeled DNA 
      library probes from flow-sorted chromosomes demonstrated that the additional 
      segment on 8p+ was derived from chromosome 6. For a more detailed 
      characterization of the marker chromosome, three-color FISH experiments with 
      library probes specific to chromosomes 6 and 8 were performed in combination with 
      newly established telomeric and subtelomeric YAC clones from 6q25, 6p23, and 
      8p23. These experiments demonstrated a trisomy 6pter-->6p22 and a monosomy 
      8pter-->8p23 in the patient. The present limitations for a broad application of 
      this strategy and its possible improvements are discussed.
FAU - Popp, S
AU  - Popp S
AD  - Institut fur Humangenetik und Anthropologie der Universitat Heidelberg, Germany.
FAU - Jauch, A
AU  - Jauch A
FAU - Schindler, D
AU  - Schindler D
FAU - Speicher, M R
AU  - Speicher MR
FAU - Lengauer, C
AU  - Lengauer C
FAU - Donis-Keller, H
AU  - Donis-Keller H
FAU - Riethman, H C
AU  - Riethman HC
FAU - Cremer, T
AU  - Cremer T
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (DNA Probes)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Child
MH  - Chromosome Aberrations/*genetics
MH  - Chromosome Disorders
MH  - *Chromosomes, Artificial, Yeast
MH  - Chromosomes, Human, Pair 6
MH  - *Chromosomes, Human, Pair 8
MH  - Clone Cells
MH  - DNA/*genetics
MH  - DNA Probes
MH  - Female
MH  - Gene Library
MH  - *Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Male
MH  - Monosomy
MH  - *Trisomy
EDAT- 1993/12/01 00:00
MHDA- 1993/12/01 00:01
CRDT- 1993/12/01 00:00
PHST- 1993/12/01 00:00 [pubmed]
PHST- 1993/12/01 00:01 [medline]
PHST- 1993/12/01 00:00 [entrez]
AID - 10.1007/BF00420933 [doi]
PST - ppublish
SO  - Hum Genet. 1993 Dec;92(6):527-32. doi: 10.1007/BF00420933.