|
A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation
Leon Mutesa1, Mauricette Jamar2, Anne Cecile Hellin2, Genevieve Pierquin2, Vincent Bours2
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,
2 Center for Human Genetics, CHU Sart-Tilman, University of Liege, 4000 Liege, Belgium,
Correspondence Address:
Leon Mutesa
Laboratory of Medical Genetics, Faculty of Medicine, National University of Rwanda, Po Box 30, Butare-Rwanda, East Africa
 Source of Support: Center for Human Genetics, University of Liège, Belgium,, Conflict of Interest: None  | 2 |
DOI: 10.4103/0971-6866.108033
|
|
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. |
