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Dup(13)(q14.2-q14.3): yet another new differential diagnostic aspect for short stature-like phenotype

Isolde Schreyer1, Annett Neumann, Volkmar Beensen

  • 1Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07743 Jena, Germany.

The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society
|March 8, 2005
PubMed

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).

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