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

Genetic Counseling

Volumn 13, Issue 4, 2002, Pages 455-457

  Morava, E ^a   Czako M ^b   Aszmann, M ^a   Illes T ^c   Kosztolányi, Gy ^a  

^a UNIVERSITY OF PÉCS   (Hungary)

^b UNIVERSITY OF PÉCS   (Hungary)

^c Medical Faculty ^*

Author keywords

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

Indexed keywords

ARTICLE; CASE REPORT; DISEASE SEVERITY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MALE; MENTAL DEFICIENCY; MOSAICISM; SCOLIOSIS; TISSUE SPECIFICITY; TRISOMY; TRISOMY 9; VERTEBRA;

CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 9; HUMANS; KARYOTYPING; MALE; MOSAICISM; SCOLIOSIS; TRISOMY;

EID: 0036935586     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

1. ARNOLD G.L., KIRBY R.S., STERN T.P., SAWYER J.R.: Trisomy 9: review and report of two new cases. Am. J. Med. Genet., 1995, 56, 252-257.
2. CANTU E.S., EICHER D.J., PAI G.S., DONAHUE C.J., HARLEY R.A.: Mosaic vs. nonmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature. Am. J. Med. Genet., 1996, 62, 330-335.
3. LOPEZ JIMENEZ J, ROMERO DOMINGUEZ A, GIMENEZ PRATS M.J., CHIMENOS KUTSNER E.: Characteristics and dental treatment of partial trisomy 9. Med. Oral., 2001, 6, 290-295.
4. SANETO R.P., APPLEGATE K.E., FRANKEL D.G.: Atypical manifestations of two cases of trisomy 9 syndrome: rethinking development delay. Am. J. Med. Genet., 1998, 80, 42-45.
5. SCHINZEL A, HAYASHI K, SCHMID W.: Trisomy 9p due to paternal translocation, t(9;13)(q13;q12). Humangenetik, 1975, 30, 307-316.
6. SUTHERLAND G.R., CARTER R.F., MORRIS L.L.: Partial and complete trisomy 9: delineation of a trisomy 9 syndrome. Hum. Genet., 1976, 32, 133-140.
7. WILSON G.N., BARR M.: Trisomy 9 mosaicism: Another etiology for the manifestations of Goldenhar syndrome. 2. Craniofac Gen. Dev. Biol., 1983, 3, 313-316.
8. WOOLDRIDGE J, ZUNICH J.: Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature. Am. J. Med. Genet., 1995, 56, 258-264.