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Prenatal diagnosis of tetrasomy 9p with Dandy–Walker malformation
Author(s) -
Hengstschläger Markus,
Bettelheim Dieter,
Drahonsky Regina,
Repa Christa,
Deutinger Josef,
Bernaschek Gerhard
Publication year - 2004
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.933
Subject(s) - tetrasomy , chorionic villus sampling , amniocentesis , prenatal diagnosis , karyotype , aneuploidy , trisomy , fetus , medicine , biology , chromosome , pregnancy , genetics , gene
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.