The potential of family flow karyotyping for the detection of chromosome abnormalities

Peter C Harris, A. Cooke, E. Boyd, B. D. Young, M. A. Ferguson-Smith

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Chromosomes from the mother, father, and child of nine families were stained with ethidium bromide and analysed in flow. These flow karyotypes on average resolved separately the homologues of 4.8 of the offspring's chromosomes. A homologue's relative DNA content (calculated from the flow karyotype) was found to be an accurate marker which could be used to trace that chromosome in a family. In this way the parental origin of 74.4% of the offspring's resolved homologues was determined. In the karyotypically normal families studied no chromosome was found in a child which was clearly different from a homologue present in one of the parents. Using parental flow karyotypes to identify familial heteromorphisms, a number of dysmorphic children were studied in an attempt to detect small "de novo" abnormalities. Although no chromosome abnormality was detected in these cases, the usefulness of family studies was illustrated. In one family a large chromosome 4 homologue was found in the child and this was shown to be similar to one found in the father, suggesting an inherited heteromorphism rather than a clinically significant duplication. Flow analysis of the parents of a patient diagnosed cytogenetically as having an interstitial deletion of the X chromosome revealed the abnormality to be a "de novo" 3;X translocation. It is suggested that flow karyotype analysis in families has potential for the detection of chromosome rearrangements at the limits of resolution of conventional cytogenetics.

Original languageEnglish (US)
Pages (from-to)129-133
Number of pages5
JournalHuman Genetics
Volume76
Issue number2
DOIs
StatePublished - Jun 1987
Externally publishedYes

Fingerprint

Karyotyping
Chromosome Aberrations
Karyotype
Chromosomes
Fathers
Parents
Chromosomes, Human, Pair 4
Ethidium
X Chromosome
Cytogenetics
Mothers
DNA

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

The potential of family flow karyotyping for the detection of chromosome abnormalities. / Harris, Peter C; Cooke, A.; Boyd, E.; Young, B. D.; Ferguson-Smith, M. A.

In: Human Genetics, Vol. 76, No. 2, 06.1987, p. 129-133.

Research output: Contribution to journalArticle

Harris, Peter C ; Cooke, A. ; Boyd, E. ; Young, B. D. ; Ferguson-Smith, M. A. / The potential of family flow karyotyping for the detection of chromosome abnormalities. In: Human Genetics. 1987 ; Vol. 76, No. 2. pp. 129-133.
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