Volume 44, Issue 6 pp. 822-823

Brief Clinical Report

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Prenatal exclusion of choroideremia

J. A. J. M. van den Hurk,

J. A. J. M. van den Hurk

Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands

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P. M. van Zandvoort,

P. M. van Zandvoort

Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands

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F. Brunsmann,

F. Brunsmann

Institut für Humangenetik and Zentrum für Frauenheilkunde, Westfälische Wilhelms-Universität, Münster, Germany

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I. H. Pawlowitzki,

I. H. Pawlowitzki

Institut für Humangenetik and Zentrum für Frauenheilkunde, Westfälische Wilhelms-Universität, Münster, Germany

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W. Holzgreve,

W. Holzgreve

Institut für Humangenetik and Zentrum für Frauenheilkunde, Westfälische Wilhelms-Universität, Münster, Germany

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P. Szabo,

P. Szabo

Department of Medicine, Cornell Medical Center, New York

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F. P. M. Cremers,

F. P. M. Cremers

Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands

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B. A. van Oost,

Corresponding Author

B. A. van Oost

Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands

Department of Human Genetics, University Hospital Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The NetherlandsSearch for more papers by this author

J. A. J. M. van den Hurk,

J. A. J. M. van den Hurk

Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands

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P. M. van Zandvoort,

P. M. van Zandvoort

Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands

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F. Brunsmann,

F. Brunsmann

Institut für Humangenetik and Zentrum für Frauenheilkunde, Westfälische Wilhelms-Universität, Münster, Germany

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I. H. Pawlowitzki,

I. H. Pawlowitzki

Institut für Humangenetik and Zentrum für Frauenheilkunde, Westfälische Wilhelms-Universität, Münster, Germany

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W. Holzgreve,

W. Holzgreve

Institut für Humangenetik and Zentrum für Frauenheilkunde, Westfälische Wilhelms-Universität, Münster, Germany

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P. Szabo,

P. Szabo

Department of Medicine, Cornell Medical Center, New York

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F. P. M. Cremers,

F. P. M. Cremers

Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands

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B. A. van Oost,

Corresponding Author

B. A. van Oost

Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands

Department of Human Genetics, University Hospital Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The NetherlandsSearch for more papers by this author

First published: 1 December 1992

https://doi.org/10.1002/ajmg.1320440621

Citations: 3

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Abstract

We performed prenatal testing to predict the inheritance of choroideremia (CHM) using a linked polymorphic DNA marker, DXS95. DNA analysis of chorionic villi at the 12th week of pregnancy indicated that the allele at risk had not been passed from the heterozygous mother to the fetus. This prenatal exclusion of choroideremia was confirmed by polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis. © 1992 Wiley-Liss, Inc.

References

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van den Hurk JAJM, van de Pol TJR, Molloy CM, Brunsmann F, Rüther K, Zrenner E, Pinckers AJLG, Pawlowitzki IH, Bleeker-Wagemakers EM, Wieringa B, Ropers H-H, Cremers FPM (1992): Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. Am J Hum Genet 50: 1195–1202.
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Volume44, Issue6

1 December 1992

Pages 822-823

Prenatal exclusion of choroideremia

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