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 BoursIndian Journal of Human Genetics 2012 18(3):352-355While 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.
Source: Indian Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Source Type: research