Article
Dup(13)(q14.2-q14.3): yet another new differential diagnostic aspect for short stature-like phenotype.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society - 1 Mar 2005
Schreyer Isolde, Neumann Annett, Beensen Volkmar, Eichhorn Karl-Heinz, Heller Anita, Claussen Uwe, Liehr Thomas
Abstract excerpt
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...
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