title: A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation.
abstract: While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our knowledge, this is the first report of a combination of XYY and XXYY syndromes.
authors.affiliation: Laboratory of Medical Genetics, Faculty of Medicine, National University of Rwanda, Rwanda, East Africa ; Center for Human Genetics, CHU Sart-Tilman, University of Liege, 4000 Liege, Belgium.
authors.forename: Leon
authors.initials: L
authors.lastname: Mutesa
authors.forename: Mauricette
authors.initials: M
authors.lastname: Jamar
authors.forename: Anne Cecile
authors.initials: AC
authors.lastname: Hellin
authors.forename: Genevieve
authors.initials: G
authors.lastname: Pierquin
authors.forename: Vincent
authors.initials: V
authors.lastname: Bours
keywords: 48; XXYY/47; XYY syndrome; congenital heart disease; multiple skeletal abnormalities