PMID- 15744521
OWN - NLM
STAT- MEDLINE
DCOM- 20050712
LR  - 20220129
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 116
IP  - 6
DP  - 2005 May
TI  - FISH analysis of hematological neoplasias with 1p36 rearrangements allows the 
      definition of a cluster of 2.5 Mb included in the minimal region deleted in 1p36 
      deletion syndrome.
PG  - 476-85
AB  - Rearrangements in the distal region of the short arm of chromosome 1 are 
      recurrent aberrations in a broad spectrum of human neoplasias. However, neither 
      the location of the breakpoints (BP) on 1p36 nor the candidate genes have been 
      fully determined. We have characterized, by fluorescence in situ hybridization 
      (FISH), the BP in 26 patients with hematological neoplasias and 1p36 
      rearrangements in the G-banding karyotype. FISH allowed a better characterization 
      of all samples analyzed. Nine cases (35%) showed reciprocal translocations, 15 
      (58%) unbalanced rearrangements, and two (7%) deletions. We describe two new 
      recurrent aberrations. In 18 of the 26 cases analyzed the BP were located in band 
      1p36, which is 25.5 Mb long. In 14 of these 18 cases (78%) and without 
      distinction between myeloid and lymphoid neoplasias, the BP clustered in a 2.5 Mb 
      region located between 1p36.32 and the telomere. Interestingly, this region is 
      contained in the 10.5 Mb cluster on 1p36.22-1pter defined in cases with 1p36 
      deletion syndrome. The 2.5 Mb region, located on 1p36.32-1pter, has a higher 
      frequency of occurrence of tandem repeats and segmental duplications larger than 
      1 kb, when compared with the 25.5 Mb of the complete 1p36 band. This could 
      explain its proneness for involvement in chromosomal rearrangements in 
      hematological neoplasias.
FAU - Lahortiga, Idoya
AU  - Lahortiga I
AD  - Laboratory of Genetics, Division of Oncology, Center for Applied Medical Research 
      (CIMA), University of Navarra, Pio XII, 55, 31080, Pamplona, Spain. 
      ilahortiga@unav.es
FAU - Vazquez, Iria
AU  - Vazquez I
FAU - Belloni, Elena
AU  - Belloni E
FAU - Roman, Jose P
AU  - Roman JP
FAU - Gasparini, Patrizia
AU  - Gasparini P
FAU - Novo, Francisco J
AU  - Novo FJ
FAU - Zudaire, Isabel
AU  - Zudaire I
FAU - Pelicci, Pier G
AU  - Pelicci PG
FAU - Hernandez, Jesus M
AU  - Hernandez JM
FAU - Calasanz, Maria J
AU  - Calasanz MJ
FAU - Odero, Maria D
AU  - Odero MD
LA  - eng
GR  - TGM03Z03/TI_/Telethon/Italy
GR  - TGM06S01/TI_/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20050303
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Child
MH  - *Chromosome Aberrations
MH  - *Chromosome Breakage
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 1
MH  - Female
MH  - Gene Rearrangement
MH  - Hematologic Neoplasms/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Syndrome
MH  - Translocation, Genetic
EDAT- 2005/03/04 09:00
MHDA- 2005/07/13 09:00
CRDT- 2005/03/04 09:00
PHST- 2004/11/19 00:00 [received]
PHST- 2005/01/04 00:00 [accepted]
PHST- 2005/03/04 09:00 [pubmed]
PHST- 2005/07/13 09:00 [medline]
PHST- 2005/03/04 09:00 [entrez]
AID - 10.1007/s00439-005-1268-1 [doi]
PST - ppublish
SO  - Hum Genet. 2005 May;116(6):476-85. doi: 10.1007/s00439-005-1268-1. Epub 2005 Mar 
      3.