title: A specific phenotype associated with trisomy 15 mosaicism.
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.
authors.affiliation: Center for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: A
authors.initials: A
authors.lastname: Kleczkowska
authors.forename: L
authors.initials: L
authors.lastname: Lagae
authors.forename: H
authors.initials: H
authors.lastname: Kenis
authors.forename: H
authors.initials: H
authors.lastname: van den Berghe
mesh_terms: D002884:Chromosomes, Human, Pair 15; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D009123:Muscle Hypotonia; D010641:Phenotype; D012886:Skull / Q000002:abnormalities*; D014314:Trisomy