Chromosomal investigations in patients with mental retardation and/or congenital malformations

Genetics and Molecular Biology

Volumn 23, Issue 4, 2000, Pages 703-707

  Santos, C B ^a   Boy, R T ^a   Santos, J M ^a   Silva, M P S ^a   Pimentel, M M G ^a  

^a STATE UNIVERSITY OF RIO DE JANEIRO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

PHYTOHEMAGGLUTININ;

ADOLESCENT; ADULT; ARTICLE; CAT CRY SYNDROME; CHILD; CHROMOSOME 13; CHROMOSOME 14; CHROMOSOME BANDING PATTERN; CHROMOSOME DISORDER; CHROMOSOME TRANSLOCATION 13; CHROMOSOME TRANSLOCATION 14; COMORBIDITY; CONGENITAL MALFORMATION; CONTROLLED STUDY; CYTOGENETICS; DOWN SYNDROME; EDWARDS SYNDROME; FEMALE; HUMAN; INFANT; KARYOTYPING; KLINEFELTER SYNDROME; LYMPHOCYTE CULTURE; MAJOR CLINICAL STUDY; MALE; MARKER CHROMOSOME; MENTAL DEFICIENCY; PATAU SYNDROME; TURNER SYNDROME;

FELIS CATUS;

EID: 0034431543     PISSN: 14154757     EISSN: None     Source Type: Journal    
DOI: 10.1590/S1415-47572000000400002     Document Type: Article

References (28)

1. Astete, C., Youlton, R., Castillo, S., Be, C. and Daher, V. (1991). Clinical and cytogenetic analysis of 257 cases of Down's syndrome. Rev. Chil. Pediatr. 62:99-102.
2. Caspersson, T., Zech, L. and Johansson, C. (1970). Differential banding of alkylating fluorochromes in human chromosomes. Exp. Cell Res. 60: 315-319.
3. Connor, J.M. and Ferguson-Smith, M.A. (1991). Essential Medical Genetics. 3rd edn. Blackwell Scientific Publications, London.
4. Dereymaeker, A.M., Fryns, J.P., Haegeman, J., Deroover, J. and Van Den Berghe, H. (1988). A genetic-diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experience. Clin. Genet. 34: 126-134.
5. Félix, T.M., Leite, J.C.L., Maluf, S.W. and Coelho, J.C. (1998). A genetic diagnostic survey in a population of 202 mentally retarded institutionalized patients in the south of Brazil. Clin. Genet. 54: 219-223.
6. Fernandez, R., Méndez, J. and Pásaro, E. (1996). Turner syndrome: a study of chromosomal mosaicism. Hum. Genet. 98: 29-35.
7. Fong, C. and Brodeur, G.M. (1987). Down's syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis. Cancer Genet. Cytogenet. 28: 55-76.
8. Fryns, J.P., Kleczkowska, A., Dereymaker, A., Hoefnagels, M., Heremans, G., Marien, J. and Van Den Berghe, H. (1986). A genetic diagnostic survey in an institutionalized population of 173 severe mentally retarded patients. Clin. Genet. 30: 315-323.
9. Fryns, J.P., Volcke, P.H., Haspeslagh, M., Beusen, L. and Van Der Berghe, H. (1990). A genetic survey in an institutionalized population of 262 moderately mentally retarded patients: the Borgerstein experience. J. Ment. Defic. Res. 34: 29-40.
10. Gersh, M., Goodart, S.A., Pasztor, L.M., Harris, D.J., Weiss, L. and Overhauser, J. (1995). Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am. J. Hum. Genet. 56: 1404-1410.
11. Giaccardi, A., Sardi, R., Priora, U., Vivalda, M., Domeneghetti, G. and Girone, P. (1991).Trisomia 18 o sindrome di Edwards. Minerva Pediatr. 43: 343-349.
12. Gustavson, K.H., Hagberg, G. and Sars, K. (1977). Severe mental retardation in a Sweedish county. Epidemiology, gestational age, birth weight and associated CNS handicaps in children born 1959-70. Acta Paediatr. Scand. 66: 313-379.
13. Hook, E.B. (1977). Exclusion of chromosome mosaicism: tables of 90%, 95%, and 99% confidence limits and comments on use. Am. J. Hum. Genet. 29: 94-97.
14. Iselius, L., Jacobs, P. and Morton, N. (1990). Leukaemia and transient leukaemia in Down syndrome. Hum. Genet. 85: 477-485.
15. Jorde, L.B., Carey, J.C. and White, R.L. (1996). Genética Humana. Guanabara Koogan, Rio de Janeiro.
16. Laxova, R., Ridler, M.A.C. and Bower-Bravery, M. (1977). An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967. Am. J. Med. Genet. 1 : 75-86.
17. Lyons, J.K. (1996). Smith's Recognizable Patterns of Human Malformations. 5th edn. WB Saunders Company, Philadelphia, USA.
18. Milunsky, A. (1992). Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment. 3rd edn. Johns Hopkins University Press, Baltimore.
19. Moorhead, P.S., Nowell, P.C., Mellman, W.J., Battips, D.M. and Hungerford, D. (1960). Chromosome preparations of leucocytes cultured from human peripheral blood. Exp. Cell Res. 20: 613-616.
20. Opitz, J.M., Shapiro, S.S. and Uehling, D.T. (1979). Genetic causes and workup of male and female infertility. Postgrad. Med. 65: 157-162.
21. Organizacion Panamericana De La Salud (OPS) (1984). Prevención y control de las enfermedades genéticas y los defectos congénitos. Publicación Científica No. 460, Washington, D.C.
22. Pimentel, M.M.G. (1999). Fragile X syndrome (review). Int. J. Mol. Med. 3: 639-645.
23. Procter, S.E., Watt, J.L., Lloyd, D.J. and Duftty, P. (1984). Problems of detecting mosaicism in skin. A case of trisomy 8 mosaicism illustrating the advantages of in situ tissue culture. Clin. Genet. 25: 273-277.
24. Roeleveld, N., Zielhuis, G.A. and Gabreëls, F. (1997). The prevalence of mental retardation: a critical review of recent literature. De v. Med. Child Neurol. 39: 125-132.
25. Salamanca, F. and Armendares, S. (1974). C bands in human metaphase chromosomes treated by barium hydroxide. Ann. Genet. 17: 135-136.
26. Taylor, A.J. (1968). Autosomal trisomy syndromes: a detailed study of 27 cases of Edward's syndrome and 27 cases of Patau's syndrome. J. Med. Genet. 5: 227-241.
27. Thompson, M.W., McInnes, R.R. and Willard, H.F. (1993). Genética Médica. 5th edn. Guanabara Koogan, Rio de Janeiro.
28. Zool, B., Wolf, J., Lensing-Hebben, D., Pruggmayer, M. and Tliorpe, B. (1993). Trisomy 13 (Patau syndrome) with an 11-year survival. Clin. Genet. 43: 46-50.