Additional clinical and cytogenetic findings associated with Rett syndrome

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 74, Issue 3, 1997, Pages 331-337

  Simonic, I ^a,d,f   Gericke, G S ^a,d   Lippert, M ^b,e   Schoeman, J F ^c  

^a UNIVERSITY OF PRETORIA   (South Africa)

^b Z A Clinic Nr 2 E11   (South Africa)

^c STELLENBOSCH UNIVERSITY   (South Africa)

^d SOUTH AFRICAN MEDICAL RESEARCH COUNCIL   (South Africa)

^e ZA Hospital   (South Africa)

^f Ingrid Simonic   (South Africa)

Author keywords

Aphidicolin; Chromosome aberrations; Fragile sites; Rett syndrome; Tourette syndrome

Indexed keywords

APHIDICOLIN;

ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME FRAGILITY; CYTOGENETICS; DISEASE ASSOCIATION; DOPAMINERGIC TRANSMISSION; FRAGILE X SYNDROME; GENE INDUCTION; GENETIC ANALYSIS; GILLES DE LA TOURETTE SYNDROME; HUMAN; HUMAN CELL; PRIORITY JOURNAL; REGULATOR GENE; RETT SYNDROME; T LYMPHOCYTE ACTIVATION; TRISOMY;

APHIDICOLIN; CHROMOSOME ABERRATIONS; CHROMOSOME FRAGILE SITES; CHROMOSOME FRAGILITY; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; HUMANS; KARYOTYPING; MATCHED-PAIR ANALYSIS; RETT SYNDROME; T-LYMPHOCYTES; TOURETTE SYNDROME; TRISOMY; X CHROMOSOME;

EID: 0030979456     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970531)74:3<331::AID-AJMG16>3.0.CO;2-P     Document Type: Article

References (23)

1. Anvret M, Wahlstrom J, Akesson HO (1993): Genetic considerations and clues from molecular genetics. In: Hagberg B, Anvert M, Wahlstrom J (eds): "Rett Syndrome-Clinical and Biological Aspects: Clinics in Developmental Medicine No.127." London: Mac Keith Press, pp 99-107.
2. Anvret M, Zhang ZP, Hagberg B (1994): Rett syndrome: The bcl-2 Gene-A Mediator of Neurotrophic Mechanisms? Neuropediatrics 25:323-324.
3. Chromosome Coordinating Meeting (1992): Cuticchia AJ, Pearson PL, Klinger HP (eds): "Genome Priority Reports," Vol. 1. Basel: Karger, 1993.
4. Curtis AR, Headland S, Lindsay S, Thomas NS, Boye E, Kamakari S, Roustan P, Anvret M, Wahlstrom J, McCarthy G, et al. (1993): X chromosome linkage studies in familial Rett syndrome. Hum Genet 90:551-555.
5. Djalali M, Steinbach P, Bullerdiek J, Holmes-Siedle M, Verschraegen-Spae MR, Smith A (1986): The significance of pericentric inversions of chromosome 2. Hum Genet 72:32-36.
6. Dominiguez AM, Smith SA, Greenbaum IF (1995): Susceptibility of heterochromatin to aphidicolin-induced chromosomal breakage. Hum Genet 96:516-520.
7. Ellison KA, Fill CP, Terwilliger J, DeGennaro LJ, Martin-Gallardo A, Anvret M, Percy AK, Ott J, Zoghbi H (1992): Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet 50:278-287.
8. Gericke GS, Simonic I, Cloete E, Becker PJ (1996): Increased expression of aphidicolin-induced common fragile sites in Tourette syndrome: The key to understand the genetics of comorbid phenotypes? Am J Med Genet, Neuropsychiatr Genet 67:25-30.
9. Gillberg C, Wahlstrom J, Hagberg B (1984): Infantile autism and Rett syndrome: Common chromosome denominator. Lancet 2:1094-1095.
10. Gillberg C, Wahlstrom J, Hagberg B (1985): A "new" chromosome marker common to the Rett syndrome and infantile autism? Brain Dev (Tokyo) 7:365-367.
11. Glover TW, Berger C, Coyle J, Echo B (1984): DNA polymerase alpha inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes. Hum Genet 67:136-142.
12. Jankovic J (1993): Tourette's syndrome: Phenomenology, pathophysiology, genetics, epidemiology and treatment. Current Neurol 13:209-227.
13. McKusick VA (1994): "Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders," 11th Ed. London: The John Hopkins University Press Ltd.
14. Nussbaum RL, Airhart SD, Ledbetter DH (1986): Recombination and am-plification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: An hypothesis. Am J Med Genet 23:715-721.
15. Percy AK (1995): Rett syndrome. Curr Opin Neurol 8:156-160.
16. Romeo G, Archidiacono N, Ferlini A, Roccho M (1986): Rett syndrome: Lack of association with fragile site Xp22 and strategy for genetic mapping of X-linked new mutations. Am J Med Genet 24:355-359.
17. Simonic I, Gericke GS (1995): Increased expression of aphidicolin-inducible breakpoints in Tourette syndrome: The way forward for linkage? J Mol Med 73:B24.
18. Simonie I, Gericke GS (1996): The enigma of common fragile sites. Hum Genet 97:524-531.
19. Sutherland GR, Hecht F (1985): Fragile sites on human chromosomes. New York: Oxford University Press.
20. Telvi L, Leboyer M, Chiron C, Feingold J, Ponsot G (1994): Is Rett syndrome a chromosome breakage syndrome? Am J Med Genet 51:602-605.
21. Wahlstrom J, Anvret M (1986): Chromosome findings in the Rett syndrome and a test of a two-step mutation theory. Am J Med Genet 24:361-368.
22. Wahlstrom J, Witt-Engerstrom I, Mellquist L, Anvert M, Oden A (1990): The Rett syndrome related to fragile X(p22) in caffeine-induced lymphocyte culture. Brain Dev (Tokyo) 12:128-130.
23. Zoghbi HY, Ledbetter DH, Schultz RJ, Percy AK, Glaze DG (1990): A de novo X;3 translocation in Rett syndrome. Am J Med Genet 35:148-151.