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  • Title: Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature.
    Author: Engelen JJ, De Die-Smulders CE, Vos PT, Meers LE, Albrechts JC, Hamers AJ.
    Journal: Ann Genet; 1999; 42(2):101-4. PubMed ID: 10434124.
    Abstract:
    Characterization of a partial trisomy 16 q with FISH: Report of a patient and literature review: We report on a 28-year-old male patient with severe growth and mental retardation, severe behavioural problems, especially automutilation, and a spastic quadriplegia. He showed no specific dysmorphism. The karyotype was 46, XY, dir dup(16) (q11.2-q13). The clinical and cytogenetical findings are compared with 3 previously reported cases with proximal duplication 16q.
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