Fryns J P, Kleczkowska A, Lagae L, Kenis H, van den Berghe H
Center for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
Ann Genet. 1993;36(2):129-31.
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.
