Sex chromosome marker: Clinical significance and DNA characterization

V. P. Johnson, P. G. McDonough, S. W. Cheung, L. Sun

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Two patients are described with a virtually identical marker sex chromosome that was so small as to defy classification by conventional cytogenetic studies. DNA hybridization with Y probes allows classification into Y or non-Y, and in situ hybridization with X centromere specific sequences, into X or non-X. One patient was proven to have a Y fragment, and the second, an X fragment. DNA characterization is important since prognosis and clinical management depends on proper identification of the small marker sex chromosome.

Original languageEnglish (US)
Pages (from-to)97-101
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number1
StatePublished - 1991
Externally publishedYes


  • DNA hybridization
  • Ullrich-Turner syndrome
  • in situ hybridization
  • restriction fragment
  • short stature

ASJC Scopus subject areas

  • Genetics(clinical)


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