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  • Title: A specific phenotype associated with trisomy 15 mosaicism.
    Author: Fryns JP, Kleczkowska A, Lagae L, Kenis H, van den Berghe H.
    Journal: Ann Genet; 1993; 36(2):129-31. PubMed ID: 8215220.
    Abstract:
    In this report the authors describe the phenotype of a female newborn with trisomy 15 mosaicism and double aneuploidy (47, XX, +15/47, XXX). Comparison with the two other patients with trisomy 15 mosaicism reported up to now, reveals a distinct phenotype with typical craniofacial dysmorphism, severe hypotonia and general symptoms and signs compatible with a fetal akinesia sequence.
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