Multiple Mißbildungen bei einem Mädchen mit dem Karyotypus 46, XY, 17q+

In a girl with multiple malformations (Pierre Robin syndrome, abortive form of dysostosis cleidocranialis, and other deformities) a spontaneous duplication-deficiency as well as the XY sex chromosomes were found. Detailed cytogenetic analysis revealed a deficiency of the distal half of the long arm of a chromosome 17. The duplication involves a region of the size of the long arm of chromosome 18. The combination of malformations as well as the autoradiographic pattern does not exclude the possibility that indeed a region of the long arm of chromosome 18 is involved.