Use of repetitive DNA for diagnosis of chromosomal rearrangements

R. D. Burk, Judith Stamberg, K. E. Young, K. D. Smith

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


We have used two repeated DNA fragments (3.4 and 2.1 kb) released from Y chromosome DNA by digestion with the restriction endonuclease Hae III to analyze potential Y chromosome/autosome translocations. Two female patients were studied who each had an abnormal chromosome 22 with extra quinacrine fluorescent material on the short arm. The origin of the 22p+ chromosomes was uncertain after standard cytologic examinations. Analysis of one patient's DNA with the Y-specific repeated DNA probes revealed the presence of both the 3.4 and 2.1 kb Y-specific fragments. Thus, in this patient, the additional material was from the Y chromosome. Analysis of the second patient's DNA for Y-specific repeated DNA was negative, indicating that the extra chromosomal segment was not from the long arm of the Y chromosome. These two cases demonstrate that repeated DNA can distinguish between similar appearing aberrant chromosomes and may be useful in karyotypic and prenatal diagnosis.

Original languageEnglish (US)
Pages (from-to)339-342
Number of pages4
JournalHuman genetics
Issue number4
StatePublished - Oct 1983
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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