PMID- 8258302
OWN - NLM
STAT- MEDLINE
DCOM- 19940119
LR  - 20180214
IS  - 0301-0171 (Print)
IS  - 0301-0171 (Linking)
VI  - 65
IP  - 4
DP  - 1994
TI  - Intragenic reorganization of RB1 in a complex (4;13) rearrangement demonstrated 
      by FISH.
PG  - 268-71
AB  - Reciprocal chromosome translocations with no apparent loss of material are the 
      most common de novo structural rearrangements in man. The large majority of these 
      cases have been characterized cytogenetically but very few have been investigated 
      at the molecular level. Using fluorescence in situ hybridization (FISH) we have 
      studied the organization of the tumor suppressor gene RB1 in a patient with 
      retinoblastoma and a rearrangement between chromosomes 4 and 13. In addition to 
      the hybridization signal on the normal chromosome 13, three distinct sites of 
      hybridization of RB1 probes on the translocated chromosomes were detected. These 
      findings show that a complex rearrangement occurred involving at least three 
      breaks on chromosome 13, two of them in the RB1 gene. This also demonstrates that 
      FISH, which offers resolution between that of fine molecular methods and 
      classical cytogenetics, is a valuable tool for investigating organization of 
      sequences at breakpoints of chromosomal rearrangements.
FAU - Rosenberg, C
AU  - Rosenberg C
AD  - Department of Biology, University of Sao Paulo, Brazil.
FAU - Janson, M
AU  - Janson M
FAU - Nordeskjold, M
AU  - Nordeskjold M
FAU - Borresen, A L
AU  - Borresen AL
FAU - Vianna-Morgante, A M
AU  - Vianna-Morgante AM
LA  - eng
PT  - Case Reports
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
GS  - RB1
MH  - Cell Line, Transformed
MH  - *Chromosomes, Human, Pair 13
MH  - *Chromosomes, Human, Pair 4
MH  - *Genes, Retinoblastoma
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Introns
MH  - Retinoblastoma/genetics
MH  - *Translocation, Genetic
EDAT- 1994/01/01 00:00
MHDA- 1994/01/01 00:01
CRDT- 1994/01/01 00:00
PHST- 1994/01/01 00:00 [pubmed]
PHST- 1994/01/01 00:01 [medline]
PHST- 1994/01/01 00:00 [entrez]
AID - 10.1159/000133645 [doi]
PST - ppublish
SO  - Cytogenet Cell Genet. 1994;65(4):268-71. doi: 10.1159/000133645.