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 language | English (US) |
|---|---|
| Pages (from-to) | 455-457 |
| Number of pages | 3 |
| Journal | Genetic Counseling |
| Volume | 13 |
| Issue number | 4 |
| State | Published - 2002 |
Keywords
- Mosaic trisomy 9
- Scoliosis, Mental retardation
- Tissue specific mosaicism
ASJC Scopus subject areas
- Genetics(clinical)