Institut for Biomedicin

Lars Bolund

Application of fluorescence in situ hybridization techniques in clinical genetics: use of two alphoid repeat probes detecting the centromeres of chromosomes 13 and 21 or chromosomes 14 and 22, respectively

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

  • S. Kølvraa
  • ,
  • J. Koch
  • ,
  • N. Gregersen
  • P. K.A. Jensen
  • ,
  • A. L. Jørgensen, Institute of Medical Microbiology, Centre for Inherited Diseases, University of Washington
  • ,
  • K. B. Petersen, Laboratory of Molecular Genetics, Aarhus Universitet
  • ,
  • K. Rasmussen
  • ,
  • L. Bolund

Two cloned DNA fragments, one derived from an alpha satellite subfamily common to chromosomes 13 and 21, and the other derived from a similar subfamily common to chromosomes 14 and 22, have been used as biotinylated probes in in situ hybridization studies. Under high stringency conditions, chromosome specific centromeric labelling can be obtained. The applications of this technique in clinical situations are illustrated on metaphases from a fetus with trisomy 21, a fetus with trisomy 13, and a child with clinical features of cat‐eye syndrome.

TidsskriftClinical Genetics
Sider (fra-til)278-286
Antal sider9
StatusUdgivet - apr. 1991

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