PMID- 15036891
OWN - NLM
STAT- MEDLINE
DCOM- 20040414
LR  - 20081121
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 149
IP  - 2
DP  - 2004 Mar
TI  - Molecular cytogenetic parameters in fibroblasts from patients and carriers of 
      xeroderma pigmentosum.
PG  - 154-60
AB  - Xeroderma pigmentosum (XP) is a rare autosomal recessive syndrome. Laboratory 
      investigations have failed to detect any consistent anomaly in cells from XP 
      heterozygotic subjects, although examples of behavior intermediate between normal 
      and XP cells have been reported. To estimate random aneuploidy we applied 
      fluorescence in situ hybridization (FISH) with alpha-satellite probes for 
      chromosomes 8 and 9 and replication pattern for TP53 (p53), ERBB2 (HER-2/neu), 
      and MYCN (N-MYC) loci and for the imprinted SNRPN locus. A significantly higher 
      rate of aneuploidy rate was observed in XP patients and carriers than in 
      controls. The asynchrony pattern was significantly higher in XP carriers and 
      patients with all three coding loci analyzed and significantly lower in XP 
      patients and carriers with the imprinted locus SNRPN than in the control group. 
      Molecular cytogenetic parameters such as random aneuploidy and replication 
      pattern, which are known to reflect chromosomal instability, may be part of the 
      tumorigenesis process. In XP patients and carriers, this genetic instability may 
      represent a potential for developing malignancies.
FAU - Amiel, A
AU  - Amiel A
AD  - Sackler School of Medicine, Tel-Aviv University, Ramat Aviv 69978, Israel. 
      Amiel.Aliza@clalit.org.il
FAU - Peretz, G
AU  - Peretz G
FAU - Slor, H
AU  - Slor H
FAU - Weinstein, G
AU  - Weinstein G
FAU - Fejgin, M D
AU  - Fejgin MD
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (Autoantigens)
RN  - 0 (Ribonucleoproteins, Small Nuclear)
RN  - 0 (SNRPN protein, human)
RN  - 0 (snRNP Core Proteins)
SB  - IM
MH  - Aneuploidy
MH  - Autoantigens
MH  - Cytogenetic Analysis
MH  - Fibroblasts
MH  - Genomic Imprinting
MH  - *Heterozygote
MH  - Humans
MH  - Ribonucleoproteins, Small Nuclear/genetics
MH  - Xeroderma Pigmentosum/*genetics
MH  - snRNP Core Proteins
EDAT- 2004/03/24 05:00
MHDA- 2004/04/15 05:00
CRDT- 2004/03/24 05:00
PHST- 2003/05/05 00:00 [received]
PHST- 2003/07/25 00:00 [revised]
PHST- 2003/07/30 00:00 [accepted]
PHST- 2004/03/24 05:00 [pubmed]
PHST- 2004/04/15 05:00 [medline]
PHST- 2004/03/24 05:00 [entrez]
AID - S0165460803003169 [pii]
AID - 10.1016/j.cancergencyto.2003.07.004 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2004 Mar;149(2):154-60. doi: 
      10.1016/j.cancergencyto.2003.07.004.