Chromosome mapping of Rett syndrome: A likely candidate region on the telomere of Xq

Journal of Medical Genetics

Volumn 35, Issue 4, 1998, Pages 297-300

  Xiang, Fengqing ^a   Zhang, Zhiping ^a   Clarke, Angus ^b   Joseluiz, Pereira ^c   Sakkubai, Naidu ^d   Sarojini, Budden ^e   Delozier Blanchet, Celia D ^f   Hansmann, Ingo ^g   Edström, Lars ^a   Anvret, Maria ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c Karolinska Hospital   (Sweden)

^d KENNEDY KRIEGER INSTITUTE   (United States)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^f UNIVERSITY OF GENEVA   (Switzerland)

^g UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

Gene mapping; Rett syndrome; X chromosome

Indexed keywords

ARTICLE; CHROMOSOME MAP; CHROMOSOME XQ; CLINICAL ARTICLE; FAMILY; FEMALE; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; GERM LINE; HUMAN; LETHALITY; MALE; MARKER GENE; PRIORITY JOURNAL; RETT SYNDROME; SEX RATIO; TELOMERE; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE;

EID: 17344364662     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.4.297     Document Type: Article

References (18)

1. Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 1983;14:471-9.
2. Journel H, Melki J, Turleau C, Munnich A, de Grouchy J. Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X. Am J Med Genet 1990;35:142-7.
3. Zoghbi HY, Ledbetter DH, Schultz R, Percy AK, Glaze DG. A de novo X;3 translocation in Rett syndrome. Am J Med Genet 1990;35:148-51.
4. Wahlström J, Uller A, Tonnby B, Darnfors C, Martinsson T, Vujic M. Congenital Rett syndrome phenotype-deletion short arm chromosome 3. Paper presented at the World Congress on Rett syndrome, Gothenburg, Sweden, 30 August-1 September 1996.
5. Herder GA, Skjeldal O, Hagberg B, Tranebjærg L. Congenital Rett syndrome phenotype-interstitial deletion chromosome 13 and retinoblastoma. Paper presented at the WorId Congress on Rett syndrome, Gothenburg, Sweden, 30 August-1 September 1996.
6. Alembik Y, Dott B, Stoll C. Rett-like syndrome in fragile X syndrome. Genet Couns 1995;6:207-10.
7. Easthaugh P, Smith L, Leonard H. Trisomy 21 associated with Rett syndrome phenotype. Paper presented at the World Congress on Rett syndrome, Gothenburg, Sweden, 30 August-1 September 1996.
8. Thomas GH. High male:female ratio of germ-line mutation: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders. Am J Hum Genet 1996;58:1364-8.
9. The Rett Syndrome Diagnostic Criteria Work Group. Diagnostic criteria for Rett syndrome. Ann Neurol 1988;23:425-8.
10. Ellison KA, Fill CP, Terwilliger J, et al. Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Med Genet 1992;50:278-87.
11. Curtis ARJ, Headland S, Lindsay S, et al. X chromosome linkage studies in families with Rett syndrome. Hum Genet 1993;90:551-5.
12. Thomas NST, Davies K, Webb T, et al. Molecular genetic studies in familial Rett syndrome. Paper presented at the World Congress on Rett syndrome, Gothenburg, Sweden, 30 August-1 September 1996.
13. Bühler EM, Malik NJ, Alkan M. Another model for the inheritance of Rett syndrome. Am J Med Genet 1990;36:126-36.
14. Anvret M, Zhang ZP, Hagberg B. Rett syndrome: the bcl-2 gene - a mediator of neutrophic mechanism? Neuropediatrics 1994;25:323-4.
15. Anvret M, Zhang ZP. Current status of genetic research in Rett syndrome. Neuropediatrics 1995;26:88-9.
16. Zoghbi HY, Percy AK, Schultz RJ, Fill C. Pattern of X chromosome inactivation in Rett syndrome. Brain Dev 1990;12:131-5.
17. Camus P, Abbadi N, Perrier MC, Chery M, Gilgenkrantz S. Chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe. Hum Genet 1996;97:247-50.
18. Vorsanova SG, Demidova LA, Ulas VY, et al. Molecular-cytogenetic and cytogenetic investigations of Rett syndrome in children. Paper presented at the World Congress on Rett syndrome, Gothenburg, Sweden, 30 August-1 September 1996.