PMID- 10379869
OWN - NLM
STAT- MEDLINE
DCOM- 19990716
LR  - 20191024
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 25
IP  - 3
DP  - 1999 Jul
TI  - Mapping of the breakpoints on the short arm of chromosome 17 in neoplasms with an 
      i(17q).
PG  - 230-40
AB  - Isochromosomes are monocentric or dicentric chromosomes with homologous arms that 
      are attached in a reverse configuration as mirror images. With an incidence of 
      3-4%, the i(17q) represents the most frequent isochromosome in human cancer. It 
      is found in a variety of tumors, particularly in blast crisis of chronic myeloid 
      leukemia (CML-BC), acute myeloid leukemia (AML), non-Hodgkin's lymphoma (NHL), 
      and medulloblastoma (MB), and indicates a poor prognosis. To determine the 
      breakpoints on the molecular genetic level, we analyzed 18 neoplasms (six CML, 
      four AML, one NHL, and seven MB) with an i(17q) and two MB with a pure del(17p) 
      applying fluorescence in situ hybridization (FISH) with yeast artificial 
      chromosome (YAC) clones, P1-artificial chromosome (PAC) clones, and cosmids from 
      a well-characterized contig covering more than 6 Mb of genomic DNA. We identified 
      four different breakpoint cluster regions. One is located close to or within the 
      centromere of chromosome 17 and a second in the Charcot-Marie-Tooth (CMT1A) 
      region at 17(p11.2). A third breakpoint was found telomeric to the CMT1A region. 
      The fourth, most common breakpoint was detected in MB, AML, and in CML-BC 
      specimens and was bordered by two adjacent cosmid clones (clones D14149 and 
      M0140) within the Smith-Magenis syndrome (SMS) region. These results indicate 
      that the low copy number repeat gene clusters which are present in the CMT and 
      SMS regions may be one of the factors for the increased instability that may 
      trigger the formation of an i(17q).
FAU - Scheurlen, W G
AU  - Scheurlen WG
AD  - Department of Pediatrics, University of Mannheim, Germany. 
      w.scheurlen@kikli.ma.uni-heidelberg.de
FAU - Schwabe, G C
AU  - Schwabe GC
FAU - Seranski, P
AU  - Seranski P
FAU - Joos, S
AU  - Joos S
FAU - Harbott, J
AU  - Harbott J
FAU - Metzke, S
AU  - Metzke S
FAU - Dohner, H
AU  - Dohner H
FAU - Poustka, A
AU  - Poustka A
FAU - Wilgenbus, K
AU  - Wilgenbus K
FAU - Haas, O A
AU  - Haas OA
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Centromere/genetics
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Breakage/genetics
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Isochromosomes/*genetics
MH  - Male
MH  - Middle Aged
MH  - Neoplasms/*genetics
EDAT- 1999/06/24 10:00
MHDA- 2000/06/20 09:00
CRDT- 1999/06/24 10:00
PHST- 1999/06/24 10:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1999/06/24 10:00 [entrez]
AID - 10.1002/(SICI)1098-2264(199907)25:3<230::AID-GCC5>3.0.CO;2-E [pii]
AID - 10.1002/(sici)1098-2264(199907)25:3<230::aid-gcc5>3.0.co;2-e [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 1999 Jul;25(3):230-40. doi: 
      10.1002/(sici)1098-2264(199907)25:3<230::aid-gcc5>3.0.co;2-e.