PMID- 12548739
OWN - NLM
STAT- MEDLINE
DCOM- 20030520
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 117A
IP  - 1
DP  - 2003 Feb 15
TI  - Disclosing the mechanisms of origin of de novo short-arm duplications of 
      chromosome 9.
PG  - 41-6
AB  - Three de novo short-arm duplications of chromosome 9 were investigated by 
      fluorescence in situ hybridization (FISH) and genotyping of microsatellite loci 
      with the aim of disclosing their mechanisms of origin. Two of these duplications 
      were identified as direct and one as an inverted duplication, and they comprised 
      nearly the entire 9p. In the two dirdup(9p), the distal breakpoints were mapped 
      to subtelomeric sequences, whereas the proximal break boundaries were defined by 
      pericentromeric sequences. The maternal origin of both duplications was 
      demonstrated, and the presence of three different alleles in distal loci 
      indicated that these rearrangements must have occurred prezygotically. In the 
      invdup(9p), the proximal breakpoint was mapped at the alphoid sequences, which 
      were partially duplicated on the tip of the rearranged 9p; subtelomeric and 
      telomeric sequences were not detected, allowing the distal breakpoint to be 
      mapped proximally to subtelomeric sequences. Genotyping of microsatellite loci 
      allowed us to conclude that this invdup(9p) chromosome had a paternal origin. 
      Homozygosity throughout the duplicated segment pointed to its probable 
      postzygotic formation. Chromatid rearrangements appeared to have originated these 
      9p duplications, involving pericentromeric and subtelomeric sequences. These 
      rearrangements might have been the result of recombination events between 
      homologous repeats in these segments.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Krepischi-Santos, Ana Cristina V
AU  - Krepischi-Santos AC
AD  - Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, 
      Sao Paulo, Brazil.
FAU - Vianna-Morgante, Angela M
AU  - Vianna-Morgante AM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adolescent
MH  - Child
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Contig Mapping
MH  - DNA/genetics
MH  - Female
MH  - Gene Duplication
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Microsatellite Repeats
EDAT- 2003/01/28 04:00
MHDA- 2003/05/21 05:00
CRDT- 2003/01/28 04:00
PHST- 2003/01/28 04:00 [pubmed]
PHST- 2003/05/21 05:00 [medline]
PHST- 2003/01/28 04:00 [entrez]
AID - 10.1002/ajmg.a.10634 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Feb 15;117A(1):41-6. doi: 10.1002/ajmg.a.10634.