PMID- 22571950
OWN - NLM
STAT- MEDLINE
DCOM- 20120814
LR  - 20120612
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 136
IP  - 4
DP  - 2012
TI  - Unbalanced 1q whole-arm translocation resulting in der(14)t(1;14)(q11-12;p11) in 
      myelodysplastic syndrome.
PG  - 256-63
LID - 10.1159/000338437 [doi]
AB  - Unbalanced whole-arm translocations (WATs) of the long arm of chromosome 1, 
      resulting in complete trisomy 1q, are chromosomal abnormalities detectable in 
      both solid tumors and hematologic neoplasms. Among the WATs of 1q to acrocentric 
      chromosomes, a few patients with der(1;15) described as a dicentric chromosome 
      have been reported so far, whereas cases of der(1;14) are much rarer. We report 
      on a case of der(1;14) detected as single anomaly in a patient with 
      myelodysplastic syndrome. The aim of our work was to investigate the breakpoints 
      of the (1;14) translocation leading to the der(1;14). Fluorescence in situ 
      hybridization (FISH) experiments have been performed on chromosome preparations 
      from bone marrow aspirate, using specific centromeric probes of both chromosomes, 
      as well as a probe mapping to 1q11 band. FISH results showed that in our patient 
      the derivative chromosome was monocentric with a unique centromere derived from 
      chromosome 14. The breakpoints of the translocation were located in the short arm 
      of chromosome 14 and in the long arm of chromosome 1, between the alphoid D1Z5 
      and the satellite II domains. The 1q breakpoint was within the pericentromeric 
      region of chromosome 1, which is notoriously an unstable chromosomal region, 
      involved in different chromosomal rearrangements.
CI  - Copyright (c) 2012 S. Karger AG, Basel.
FAU - Fogu, G
AU  - Fogu G
AD  - Clinical Genetics, Department of Biomedical Sciences, Sassari, Italy. 
      gfogu@uniss.it
FAU - Campus, P M
AU  - Campus PM
FAU - Cambosu, F
AU  - Cambosu F
FAU - Moro, M A
AU  - Moro MA
FAU - Sanna, R
AU  - Sanna R
FAU - Fozza, C
AU  - Fozza C
FAU - Nieddu, R M
AU  - Nieddu RM
FAU - Longinotti, M
AU  - Longinotti M
FAU - Montella, A
AU  - Montella A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
DEP - 20120510
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
SB  - IM
MH  - Aged
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Chromosomes, Human, Pair 14/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Myelodysplastic Syndromes/etiology/*genetics
MH  - Time Factors
MH  - *Translocation, Genetic
EDAT- 2012/05/11 06:00
MHDA- 2012/08/15 06:00
CRDT- 2012/05/11 06:00
PHST- 2012/03/12 00:00 [accepted]
PHST- 2012/05/11 06:00 [entrez]
PHST- 2012/05/11 06:00 [pubmed]
PHST- 2012/08/15 06:00 [medline]
AID - 000338437 [pii]
AID - 10.1159/000338437 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2012;136(4):256-63. doi: 10.1159/000338437. Epub 2012 May 
      10.