Physical mapping of two Xp markers DXS16 and DXS143

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

doi:10.1007/BF00201850

Physical mapping of two Xp markers DXS16 and DXS143

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

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14 Scopus citations

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.

Original language	English (US)
Pages (from-to)	418-420
Number of pages	3
Journal	Human Genetics
Volume	86
Issue number	4
DOIs	https://doi.org/10.1007/BF00201850
State	Published - Feb 1991
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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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.",

author = "Ulrike Thies and Rao, {V. V.N.Gopal} and Wolfgang Engel and J{\"o}rg Schmidtke",

year = "1991",

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T1 - Physical mapping of two Xp markers DXS16 and DXS143

AU - Thies, Ulrike

AU - Rao, V. V.N.Gopal

AU - Engel, Wolfgang

AU - Schmidtke, Jörg

PY - 1991/2

Y1 - 1991/2

N2 - 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.

AB - 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.

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Physical mapping of two Xp markers DXS16 and DXS143

Abstract

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