PMID- 11279311
OWN - NLM
STAT- MEDLINE
DCOM- 20010510
LR  - 20171101
IS  - 0001-5792 (Print)
IS  - 0001-5792 (Linking)
VI  - 104
IP  - 4
DP  - 2000
TI  - Dup(12)(q13-q22) and 13q14 deletion in a case of B-cell chronic lymphocytic 
      leukemia.
PG  - 197-201
AB  - Cases with partial trisomy 12 have rarely been found in B-cell chronic 
      lymphocytic leukemia (CLL). We report our clinical, cytogenetic and fluorescence 
      in situ hybridization (FISH) findings in a CLL patient with a duplication of part 
      of the long arm of chromosome 12 between bands q13-q22. This patient was the only 
      case with this duplication among the 112 cases (0.9%) of CLL cytogenetically 
      analyzed in our laboratory. FISH studies using unique-sequence specific probes 
      for the RB-1 (retinoblastoma) gene and the D13S319 locus at the 13q14 band showed 
      a monoallelic loss for the D13S319 locus (20% of cells) with a diploid RB-1 gene. 
      Our case showed an atypical morphology (35% prolymphocytes), a high proliferation 
      rate and progression of the disease, indicating that the duplication of this 
      region may be equivalent to complete trisomy 12 in CLL patients.
CI  - Copyright 2001 S. Karger AG, Basel
FAU - Chena, C
AU  - Chena C
AD  - Departamento de Genetica, Instituto de Investigaciones Hematologicas Mariano R. 
      Castex, Academia Nacional de Medicina, Pacheco de Melo 3081, 1425-Buenos Aires, 
      Argentina.
FAU - Sarmiento, M
AU  - Sarmiento M
FAU - Palacios, M F
AU  - Palacios MF
FAU - Scolnik, M
AU  - Scolnik M
FAU - Slavutsky, I
AU  - Slavutsky I
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Acta Haematol
JT  - Acta haematologica
JID - 0141053
SB  - IM
MH  - Aged
MH  - Alleles
MH  - Cell Division/genetics
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - Cytogenetic Analysis
MH  - Disease Progression
MH  - Female
MH  - *Gene Deletion
MH  - *Gene Duplication
MH  - Humans
MH  - Immunophenotyping
MH  - In Situ Hybridization, Fluorescence
MH  - Leukemia, Lymphocytic, Chronic, B-Cell/etiology/*genetics/pathology
MH  - Retinoblastoma/genetics
MH  - Trisomy
EDAT- 2001/03/30 10:00
MHDA- 2001/05/22 10:01
CRDT- 2001/03/30 10:00
PHST- 2001/03/30 10:00 [pubmed]
PHST- 2001/05/22 10:01 [medline]
PHST- 2001/03/30 10:00 [entrez]
AID - 46515 [pii]
AID - 10.1159/000046515 [doi]
PST - ppublish
SO  - Acta Haematol. 2000;104(4):197-201. doi: 10.1159/000046515.