PMID- 10751083
OWN - NLM
STAT- MEDLINE
DCOM- 20000524
LR  - 20081121
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 91
IP  - 1
DP  - 2000 Mar 6
TI  - Duplication of chromosome region 8p23.1-->p23.3: a benign variant?
PG  - 18-21
AB  - Chromosome analysis was performed in a 34-year-old man who was phenotypically 
      normal except for oligoasthenozoospermia. In this patient, analysis of GTG-banded 
      chromosomes showed in one chromosome 8 additional chromosomal material of unknown 
      origin. To characterize the aberrant chromosome more precisely, a paint specific 
      for chromosome region 8pter-->8p23.1 was generated by microdissection and 
      degenerated oligonucleotide primed-polymerase chain reaction (DOP-PCR) and used 
      as fluorescence in situ hybridization (FISH) paint. After reverse painting, 
      hybridization signals were only found on the short arm of the two chromosomes 8, 
      with an enlarged signal on the derivative chromosome 8. The duplication was 
      characterized further with band-specific FISH probes. We concluded that (part of) 
      chromosome region 8p23.1-->p23.3 was duplicated. Chromosome analysis of the 
      parents showed that the dup(8) was of maternal origin and that the fertile 
      brother of the index patient also was a carrier of the chromosome aberration. 
      There was no history of miscarriages. We suggest that duplication of region 
      8p23.1-->p23.3 can be regarded as euchromatic variant or duplication with no 
      phenotypic effect.
FAU - Engelen, J J
AU  - Engelen JJ
AD  - Department of Molecular Cell Biology and Genetics, University Maastricht, The 
      Netherlands. john.engelen@gen.unimaas.nl
FAU - Moog, U
AU  - Moog U
FAU - Evers, J L
AU  - Evers JL
FAU - Dassen, H
AU  - Dassen H
FAU - Albrechts, J C
AU  - Albrechts JC
FAU - Hamers, A J
AU  - Hamers AJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Adult
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - Family Health
MH  - Female
MH  - Gene Duplication
MH  - Genetic Variation
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Middle Aged
MH  - Oligospermia
EDAT- 2000/04/06 09:00
MHDA- 2000/06/08 09:00
CRDT- 2000/04/06 09:00
PHST- 2000/04/06 09:00 [pubmed]
PHST- 2000/06/08 09:00 [medline]
PHST- 2000/04/06 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(20000306)91:1<18::AID-AJMG3>3.0.CO;2-3 [pii]
PST - ppublish
SO  - Am J Med Genet. 2000 Mar 6;91(1):18-21.