title: Physical mapping of two Xp markers DXS16 and DXS143.
abstract: 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.
authors.affiliation: Institut für Humangenetik der Universität, Göttingen, Federal Republic of Germany.
authors.forename: U
authors.initials: U
authors.lastname: Thies
authors.forename: V V
authors.initials: VV
authors.lastname: Rao
authors.forename: W
authors.initials: W
authors.lastname: Engel
authors.forename: J
authors.initials: J
authors.lastname: Schmidtke
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002874:Chromosome Mapping; D015342:DNA Probes; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D008677:Metaphase; D015183:Restriction Mapping; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers