Prenatal diagnosis of tetrasomy 9p with Dandy-Walker malformation.
OBJECTIVE
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.
Hengstschläger
Markus
M
Obstetrics and Gynecology, Prenatal Diagnosis and Therapy, Medical University of Vienna, Vienna, Austria. markus.hengstschlaeger@akh-wien.ac.at
Bettelheim
Dieter
D
Drahonsky
Regina
R
Repa
Christa
C
Deutinger
Josef
J
Bernaschek
Gerhard
G
D000328:Adult; D000649:Amniocentesis; D000782:Aneuploidy; D015193:Chorionic Villi Sampling; D002899:Chromosomes, Human, Pair 9; D003616:Dandy-Walker Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal