We report on the case of a pregnant woman with hyposomia who was previously suspected of having Turner syndrome. Prenatal cytogenetic diagnostics showed a fetal karyotype of 46,XX,dup(13)(q14.2q21.1) ish.13q14(RB1 x 3). Parental and grandparental chromosome analyses were performed and the dup(13) was found to be of maternal origin (de novo). The pregnancy was continued and a healthy female child was born with normal development apart from growth retardation. The reported chromosomal aberration is, together with two other cases reported in the literature, the first hint of a short stature-like phenotype due to dup(13)(q14.2q14.3).

Prenatal DiagnosisVolume 22, Issue 6 p. 497-499 Letter to the Editor Two more possible pitfalls of rapid prenatal diagnostics using interphase nuclei Thomas Liehr, Corresponding Author Thomas Liehr Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deInstitut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, Germany.Search for more papers by this authorIsolde Schreyer, Isolde Schreyer Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorAnnett Neumann, Annett Neumann Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorVolkmar Beensen, Volkmar Beensen Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorMonika Ziegler, Monika Ziegler Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorIsabell Hartmann, Isabell Hartmann Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorHeike Starke, Heike Starke Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorAnita Heller, Anita Heller Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorAngela Nietzel, Angela Nietzel Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorUwe Claussen, Uwe Claussen Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this author Thomas Liehr, Corresponding Author Thomas Liehr Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deInstitut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07740 Jena, Germany.Search for more papers by this authorIsolde Schreyer, Isolde Schreyer Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorAnnett Neumann, Annett Neumann Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorVolkmar Beensen, Volkmar Beensen Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorMonika Ziegler, Monika Ziegler Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorIsabell Hartmann, Isabell Hartmann Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorHeike Starke, Heike Starke Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorAnita Heller, Anita Heller Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorAngela Nietzel, Angela Nietzel Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this authorUwe Claussen, Uwe Claussen Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany. E‒mail: i8lith@mti-n.mti.uni-jena.deSearch for more papers by this author First published: 06 June 2002 https://doi.org/10.1002/pd.299Citations: 15AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume22, Issue6June 2002Pages 497-499 RelatedInformation