PMID- 12210324
OWN - NLM
STAT- MEDLINE
DCOM- 20030212
LR  - 20061115
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 111
IP  - 3
DP  - 2002 Aug 15
TI  - Duplication of 8p23.2: a benign cytogenetic variant?
PG  - 285-8
AB  - We describe a duplication of the 8p23.2 band in seven individuals from four 
      families. The duplication was recognizable as an enlarged 8p23.2 band on G-banded 
      chromosomes at the 550 band level. It was transmitted from a parent to offspring 
      in three of the four families in which both parents were karyotyped. Each proband 
      in the four families had the enlarged band and showed various phenotypic 
      abnormalities, but the abnormalities were inconsistent. Chromosomal and 
      interphase fluorescence in situ hybridization (FISH) analysis of the enlarged 
      band region defined a 2.5-Mb duplicated segment common to all seven individuals 
      studied. Interphase FISH analysis of peripheral blood lymphocytes from 50 
      unrelated normal individuals showed the duplication in three individuals. In view 
      of these findings, it is most likely that the 8p23.2 duplication we described is 
      a normal variant.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Harada, Naoki
AU  - Harada N
AD  - Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, 
      Japan.
FAU - Takano, Jun
AU  - Takano J
FAU - Kondoh, Tatsuro
AU  - Kondoh T
FAU - Ohashi, Hirofumi
AU  - Ohashi H
FAU - Hasegawa, Tomonobu
AU  - Hasegawa T
FAU - Sugawara, Hirobumi
AU  - Sugawara H
FAU - Ida, Tomoko
AU  - Ida T
FAU - Yoshiura, Ko-ichiro
AU  - Yoshiura K
FAU - Ohta, Tohru
AU  - Ohta T
FAU - Kishino, Tatsuya
AU  - Kishino T
FAU - Kajii, Tadashi
AU  - Kajii T
FAU - Niikawa, Norio
AU  - Niikawa N
FAU - Matsumoto, Naomichi
AU  - Matsumoto N
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  - Child
MH  - *Chromosome Aberrations
MH  - *Chromosomes, Human, Pair 8
MH  - Female
MH  - *Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
EDAT- 2002/09/05 10:00
MHDA- 2003/02/14 04:00
CRDT- 2002/09/05 10:00
PHST- 2002/09/05 10:00 [pubmed]
PHST- 2003/02/14 04:00 [medline]
PHST- 2002/09/05 10:00 [entrez]
AID - 10.1002/ajmg.10584 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Aug 15;111(3):285-8. doi: 10.1002/ajmg.10584.