Trisomy of the short arm of chromosome 10p; case report of a female patient with de nova duplication 10p11.2-15

Trisomy 10p is a rare chromosomal syndrome, characterized by craniofacial a bnormalities, malformations of organs and sceleton, and impaired psychomoto r development. In most of the cases partial trisomy 10p results of a balanc ed translocation or inversion, the mother being carrier of the structural a bnormality. Only eight of 63 patients with trisomy 10p found in a literatur e survey present a de novo trisomy. 17 cases show a pure trisomy 10p withou t an associated deficiency of any other chromosome segment. We report a fem ale patient with an interchromosomal de novo duplication 10p11.2-->15, demo nstrating typical clinical signs like craniofacial abnormalities, oral clef t, club foot, seizures, and a severe delay of psychomotor development.