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

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.

• Authors: Markus Hengstschläger, Dieter Bettelheim, Regina Drahonsky, Christa Repa, Josef Deutinger, Gerhard Bernaschek
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 24 Issue 8 Pg. 623-6 (Aug 2004) ISSN: 0197-3851 [Print] England
• PMID: 15305350 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2004 John Wiley & Sons, Ltd.

Topics

• Adult
• Amniocentesis
• Aneuploidy
• Chorionic Villi Sampling
• Chromosomes, Human, Pair 9
• Dandy-Walker Syndrome (diagnostic imaging, genetics)
• Female
• Gestational Age
• Humans
• In Situ Hybridization, Fluorescence
• Karyotyping
• Pregnancy
• Prenatal Diagnosis
• Ultrasonography, Prenatal