Tissue specific mosaicism of trisomy 9 in a patient with severe torsion scoliosis.
We report on a female patient who had mosaic trisomy 9, presenting with severe scoliosis and mental retardation. Scoliosis is seldom reported in patients with mosaic trisomy 9 syndrome. FISH studies in our proband detected no trisomic cell line in the paravertebral muscle.
Morava
E
E
University of Pécs, Medical Faculty, Department of Medical Genetics and Child Development, Pécs, 7623, Hungary. emorava@yahoo.com
Czakó
M
M
Aszmann
M
M
Illés
T
T
Kosztolányi
G Y
GY
D002675:Child, Preschool; D002871:Chromosome Banding; D002899:Chromosomes, Human, Pair 9; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012600:Scoliosis / Q000235:genetics*; D014314:Trisomy