Application of flow karyotyping in prenatal detection of chromosome aberrations

Joe Gray, B. Trask, G. Van Den Engh, A. Silva, C. Lozes, S. Schonberg, L. C. Yu, M. S. Golbus

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

This paper describes the application of bivariate flow karyotyping to (1) classification of chromosome isolated from cultures of cells taken by amniocentesis and (2) detection of numerical and structural aberrations. Chromosomes were isolated from primary cultures 2-5 wk after amniocentesis, stained with Hoechst 33258 and chromomycin A3, and analyzed using dual beam flow cytometry. Information about chromosome DNA content and DNA base composition was derived from the locations of the peaks in the flow karyotypes, each peak being produced by one or more chromosome types with similar DNA content and DNA base composition. Information about the relative frequency of each chromosome type was determined on the basis of the relative volume of the peak for that chromosome type. Cytogenetic information determined on the basis of flow karyotypes was compared with that obtained by visual analysis following G-banding. Variability among the peak means and volumes in flow karyotypes was determined from analyses of 50 normal amniocyte cultures. Numerical aberrations involving chromosomes 21, 18, and Y were detected correctly in all of 28 analyses, including eight in a blind study. Structural aberrations involving chromosomes 1, 2, 3, 6, 9-12, 13, 14, 15, 21, and 22 were detected in all of seven cultures in a blind study. Flow karyotypes proved to be insensitive to small, normally occurring chromosome polymorphisms detected by banding analysis. In addition, a few samples were erroneously scored as having numerical aberrations.

Original languageEnglish (US)
Pages (from-to)49-59
Number of pages11
JournalAmerican Journal of Human Genetics
Volume42
Issue number1
StatePublished - 1988
Externally publishedYes

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Karyotyping
Chromosome Aberrations
Chromosomes
Karyotype
Amniocentesis
Chromosomes, Human, Pair 1
DNA
Base Composition
Chromomycin A3
Bisbenzimidazole
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 21
Chromosomes, Human, Pair 2
Cytogenetics
Flow Cytometry
Cell Culture Techniques

ASJC Scopus subject areas

  • Genetics

Cite this

Gray, J., Trask, B., Van Den Engh, G., Silva, A., Lozes, C., Schonberg, S., ... Golbus, M. S. (1988). Application of flow karyotyping in prenatal detection of chromosome aberrations. American Journal of Human Genetics, 42(1), 49-59.

Application of flow karyotyping in prenatal detection of chromosome aberrations. / Gray, Joe; Trask, B.; Van Den Engh, G.; Silva, A.; Lozes, C.; Schonberg, S.; Yu, L. C.; Golbus, M. S.

In: American Journal of Human Genetics, Vol. 42, No. 1, 1988, p. 49-59.

Research output: Contribution to journalArticle

Gray, J, Trask, B, Van Den Engh, G, Silva, A, Lozes, C, Schonberg, S, Yu, LC & Golbus, MS 1988, 'Application of flow karyotyping in prenatal detection of chromosome aberrations', American Journal of Human Genetics, vol. 42, no. 1, pp. 49-59.
Gray J, Trask B, Van Den Engh G, Silva A, Lozes C, Schonberg S et al. Application of flow karyotyping in prenatal detection of chromosome aberrations. American Journal of Human Genetics. 1988;42(1):49-59.
Gray, Joe ; Trask, B. ; Van Den Engh, G. ; Silva, A. ; Lozes, C. ; Schonberg, S. ; Yu, L. C. ; Golbus, M. S. / Application of flow karyotyping in prenatal detection of chromosome aberrations. In: American Journal of Human Genetics. 1988 ; Vol. 42, No. 1. pp. 49-59.
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