Mutesa, LeonJamar, MauricetteHellin, Anne CecilePierquin, GenevieveBours, Vincent2013-04-022013-04-022012-09Mutesa Leon, Jamar Mauricette, Hellin Anne Cecile, Pierquin Genevieve, Bours Vincent. A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation. Indian Journal of Human Genetics. 2012 Sept; 18(3): 352-355.http://imsear.searo.who.int/handle/123456789/145861While 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.en48XXYY/47XYY syndromecongenital heart diseasemultiple skeletal abnormalitiesArticle