Prenatal diagnosis of tetrasomy 9p with Dandy-Walker malformation

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 exami...

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Bibliographic Details
Published in:Prenatal diagnosis 2004-08, Vol.24 (8), p.623-626
Main Authors: Hengstschläger, Markus, Bettelheim, Dieter, Drahonsky, Regina, Repa, Christa, Deutinger, Josef, Bernaschek, Gerhard
Format: Article
Language:English
Subjects:
Adult
Amniocentesis
Aneuploidy
Biological and medical sciences
Birth control
Chorionic Villi Sampling
Chromosomes, Human, Pair 9
Dandy-Walker malformation
Dandy-Walker Syndrome - diagnostic imaging
Dandy-Walker Syndrome - genetics
Female
Gestational Age
Gynecology. Andrology. Obstetrics
Hormonal contraception
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Malformations of the nervous system
Medical sciences
Neurology
Pregnancy
Prenatal Diagnosis
prenatal genetic diagnosis
tetrasomy 9p
Ultrasonography, Prenatal
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Summary: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.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.933