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Dup(13)(q14.2-q14.3) : Yet Another New Differential Diagnostic Aspect for Short Stature–like Phenotype

Isolde Schreyer, Annett Neumann, Volkmar Beensen, Karl-Heinz Eichhorn, Anita Heller, Uwe Claussen and Thomas Liehr

Institute of Human Genetics and Anthropology, Jena, Germany (IS,AN,VB,AH,UC,TL), and Ambulance of Gynecology, Weimar, Germany (K-HE)

Correspondence to: Dr. Thomas Liehr, Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07743 Jena, Germany. E-mail: i8lith{at}mti.uni-jena.de

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). (J Histochem Cytochem 53:365–366, 2005)

Key Words: prenatal diagnosis • FISH • multicolor banding • short stature • chromosomal duplication

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