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Prenat Diagn. 2004 Aug;24(8):623-6.

Prenatal diagnosis of tetrasomy 9p with Dandy-Walker malformation.

Author information

  • 1Obstetrics and Gynecology, Prenatal Diagnosis and Therapy, Medical University of Vienna, Vienna, Austria. markus.hengstschlaeger@akh-wien.ac.at

Abstract

OBJECTIVES:

To add to the knowledge of chromosomal abnormalities associated with Dandy-Walker malformation.

METHODS:

Molecular cytogenetic analyses of a chorionic villus sampling and of an amniocentesis of a fetus with Dandy-Walker malformation and abnormal somatic development.

RESULTS:

All cells examined showed a 47, XY, +idic(9p)(pter-->q12::q12-->pter) de novo karyotype. This report describes the fourth case of a tetrasomy 9p associated with Dandy-Walker malformation.

CONCLUSIONS:

This case, together with the three previously reported cases of an association with a tetrasomy 9p, indicate that this chromosomal aberration should be looked for when Dandy-Walker malformation is detected via prenatal ultrasonography.

Copyright 2004 John Wiley & Sons, Ltd.

[PubMed - indexed for MEDLINE]
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