A specific phenotype associated with trisomy 15 mosaicism.
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.
Fryns
J P
JP
Center for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
Kleczkowska
A
A
Lagae
L
L
Kenis
H
H
van den Berghe
H
H
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