Physical mapping of two Xp markers DXS16 and DXS143

Ulrike Thies, V. V.N.Gopal Rao, Wolfgang Engel, Jörg Schmidtke

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Lymphocyte karyotyping of an infant girl with the clinical features of microphthalmia, iridoschisis, goiter, hip joint dysplasia, labium synechia and craniotabes revealed an Xp deletion. The lymphocyte karyotypes of the parents were normal. Bromodeoxyuridine incorporation studies showed that, in 42 out of 43 metaphases, the deleted X chromosome was late replicating. In one metaphase, the normal X chromosome was observed to be allocyclic. Using DNA markers from the Xp22 region, the breakpoint was assigned distal to DXS16 (pXUT23) and proximal to DXS143 (dic56). Dosage intensity measurements confirmed that the STS gene and the DNA marker DXS31 were involved in the deleted area. Restriction fragment length polymorphism analysis revealed that the paternally derived X-chromosome was deleted.

Original languageEnglish (US)
Pages (from-to)418-420
Number of pages3
JournalHuman Genetics
Issue number4
StatePublished - Feb 1991
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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