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  • Title: [Trisomy of the short arm of chromosome 10p; description of a female patient with de novo duplication 10p11.2-15].
    Author: Fechtrup B, Kalhoff H, Diekmann L, Fritz B.
    Journal: Klin Padiatr; 2000; 212(1):35-40. PubMed ID: 10719682.
    Abstract:
    Trisomy 10p is a rare chromosomal syndrome, characterized by craniofacial abnormalities, malformations of organs and skeleton, and impaired psychomotor development. In most of the cases partial trisomy 10p results of a balanced translocation or inversion, the mother being carrier of the structural abnormality. Only eight of 63 patients with trisomy 10p found in a literature survey present a de novo trisomy. 17 cases show a pure trisomy 10p without an associated deficiency of any other chromosome segment. We report a female patient with an interchromosomal de novo duplication 10p11.2-->15, demonstrating typical clinical signs like craniofacial abnormalities, oral cleft, club foot, seizures, and a severe delay of psychomotor development.
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