Tissue specific mosaicism of trisomy 9 in a patient with severe torsion scoliosis

É Morava, M. Czakó, M. Aszmann, T. Illés, Gy Kosztolányi

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)455-457
Number of pages3
JournalGenetic Counseling
Volume13
Issue number4
StatePublished - Dec 1 2002

Keywords

  • Mosaic trisomy 9
  • Scoliosis, Mental retardation
  • Tissue specific mosaicism

ASJC Scopus subject areas

  • Genetics(clinical)

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