[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Mutesa, Leon
JAMAR, Mauricette ; Centre Hospitalier Universitaire de Liège - CHU > Génétique
PIERQUIN, Geneviève ; Centre Hospitalier Universitaire de Liège - CHU > Génétique
BOURS, Vincent ; Centre Hospitalier Universitaire de Liège - CHU > Génétique
Language :
English
Title :
A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation.
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