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1.
Rehabilitation needs of a genetic counseling unit.
Aszmann, M; Hadzsiev, K; Kosztolányi, G.
Genet Couns ; 16(4): 417-9, 2005.
Article in English | MEDLINE | ID: mdl-16440886

Subject(s)
Congenital Abnormalities/genetics , Congenital Abnormalities/therapy , Genetic Counseling/organization & administration , Health Services Needs and Demand , Physical Therapy Modalities , Female , Humans , Male , Psychomotor Disorders/genetics
2.
Tissue specific mosaicism of trisomy 9 in a patient with severe torsion scoliosis.
Morava, E; Czakó, M; Aszmann, M; Illés, T; Kosztolányi, G Y.
Genet Couns ; 13(4): 455-7, 2002.
Article in English | MEDLINE | ID: mdl-12558117

ABSTRACT

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.


Subject(s)
Chromosomes, Human, Pair 9 , Mosaicism , Scoliosis/genetics , Trisomy , Child, Preschool , Chromosome Banding , Humans , Karyotyping , Male
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