A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation

Leon Mutesa; Mauricette Jamar; Anne Cecile Hellin; Genevieve Pierquin; Vincent Bours

doi:10.4103/0971-6866.108033

A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation

Indian J Hum Genet. 2012 Sep;18(3):352-5. doi: 10.4103/0971-6866.108033.

Authors

Leon Mutesa¹, Mauricette Jamar, Anne Cecile Hellin, Genevieve Pierquin, Vincent Bours

Affiliation

¹ 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.

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.

Keywords: 48; XXYY/47; XYY syndrome; congenital heart disease; multiple skeletal abnormalities.

Publication types

Case Reports