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: J P Fryns, A Kleczkowska, L Lagae, H Kenis, H van den Berghe
• Journal: Annales de genetique (Ann Genet) Vol. 36 Issue 2 Pg. 129-31 ( 1993) ISSN: 0003-3995 [Print] Netherlands
• PMID: 8215220 (Publication Type: Case Reports, Journal Article)

Topics

• Chromosomes, Human, Pair 15
• Facial Bones (abnormalities)
• Female
• Humans
• Infant, Newborn
• Karyotyping
• Mosaicism
• Muscle Hypotonia
• Phenotype
• Skull (abnormalities)
• Trisomy