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Title: A specific phenotype associated with trisomy 15 mosaicism
Authors: Fryns, Jean-Pierre ×
Kleczkowska, A
Lagae, Lieven
Kenis, H
Van den Berghe, Herman #
Issue Date: Jan-1993
Publisher: Elsevier Science
Series Title: Annales de Génétique vol:36 issue:2 pages:129-131
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.
ISSN: 0003-3995
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Brain & Metabolism Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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