PMID- 12407704
OWN - NLM
STAT- MEDLINE
DCOM- 20030407
LR  - 20061115
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 113
IP  - 2
DP  - 2002 Nov 22
TI  - Delimitation of duplicated segments and identification of their parental origin 
      in two partial chromosome 3p duplications.
PG  - 144-50
AB  - Two chromosome 3 short arm duplications identified through G-banding were further 
      investigated using fluorescence in situ hybridization (FISH) and polymerase chain 
      reaction (PCR) of microsatellite markers, aiming at mapping breakpoints and 
      disclosing mechanisms of origin of these chromosome aberrations. Patient 1 was 
      found to be a mosaic: a 3p12 --> 3p21 duplication was observed in most of his 
      cells, and a normal cell line occurred with a frequency of about 3% in blood. In 
      situ hybridization of chromosome 3 short- and long-arm libraries confirmed the 
      short-arm duplication. Using FISH of short-arm sequences, the YAC 961_h_3 was 
      shown to contain the proximal breakpoint (3p12.1 or 3p12.2), and the distal 
      breakpoint was located between the YACs 729_c_3 and 806_h_2, which are adjacent 
      in the WC 3.10 contig (3p21.1). In Patient 2, G-banding indicated a 3p21 --> 3p24 
      duplication, without mosaicism. In situ hybridization of chromosome 3 short- and 
      long-arm libraries confirmed the duplication of short-arm sequences. FISH of 
      chromosome 3 sequences showed that the YAC 749_a_7 spanned the proximal 
      breakpoint (3p21.33). The distal breakpoint mapped to the interval between YACs 
      932_b_6 (3p24.3) and 909_b_6 (3p25). In both cases, microsatellite genotyping 
      pointed to a rearrangement between paternal sister chromatids.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Antonini, Sylvie
AU  - Antonini S
AD  - Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, 
      Brazil.
FAU - Kim, Chong A
AU  - Kim CA
FAU - Sugayama, Sofia M
AU  - Sugayama SM
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
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Adolescent
MH  - Child
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - Family Health
MH  - Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Microsatellite Repeats
EDAT- 2002/10/31 04:00
MHDA- 2003/04/08 05:00
CRDT- 2002/10/31 04:00
PHST- 2002/10/31 04:00 [pubmed]
PHST- 2003/04/08 05:00 [medline]
PHST- 2002/10/31 04:00 [entrez]
AID - 10.1002/ajmg.10735 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Nov 22;113(2):144-50. doi: 10.1002/ajmg.10735.