Artículos de revistas
The Inclusion Of New Techniques Of Chromosome Analysis Has Improved The Cytogenetic Profile Of Turner Syndrome [a Inclusão De Novas Técnicas De Análise Citogenética Aperfeiçoou O Diagnóstico Cromossômico Da Síndrome De Turner]
Registro en:
Arquivos Brasileiros De Endocrinologia E Metabologia. , v. 53, n. 9, p. 1137 - 1142, 2009.
42730
2-s2.0-77049112045
Autor
Barros B.A.
Maciel-Guerra A.T.
de Mello M.P.
Coeli F.B.
de Carvalho A.B.
Viguetti-Campos N.
de Godoy Assumpcao J.
Marques-de-Faria A.P.
de Lemos-Marini S.H.L.
Guerra-Junior G.
Institución
Resumen
Objective: To evaluate the effect of the improvement of chromosome analysis on the cytoge- netic findings of Turner syndrome (TS) patients. Methods: Retrospective study of the results of the karyotypes of 260 patients with TS, regarding banding techniques, number of cells analyzed and results of investigation of Y-chromosome sequences. According to karyotype, divided in 45,X; sex chromosome mosaicism without Y; structural aberrations of sex chromosomes with or without mosaicism; sex chromosome mosaicism with Y. Results: 45,X was the most frequent karyotype (108), followed by structural aberrations (88) and mosaics (58 without Y and 6 with Y). Introduction of banding techniques and increase in the number of cells analyzed resulted in progressive decrease of 45,X karyotype and increase of structural aberrations. The study of Y- chromosome sequences was performed in 96 cases of which 10 resulted positive. Conclusions: Improvement of chromosome analysis over the years has modified the cytogenetic profile of TS. 53 9 1137 1142 Nielsen, J., Vohlert, M., Sex chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark (1991) Birth Defects Orig Artic Ser., 24, pp. 209-223 de la Chapelle, A., Sex chromosome abnormalities (1983) Principles and Practice of Medical Genetics, pp. 193-215. , In: Emey AEH, Rimon DL, editors, Edinburgh: Churchill Livingstone Hook, E.B., Warburton, D., The distribution of chromosomal genotypes associated with Turner syndrome: Livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism (1983) Hum Genet., 64, pp. 24-27 Gravholt, C.H., Epidemiological, endocrine and metabolic features in Turner syndrome (2004) Eur J Endocrinol., 151, pp. 657-687 Gravholt, C.H., Clinical practice in Turner syndrome (2005) Nat Clin Pract Endocrinol Metab., 1, pp. 41-52 Hjerrild, B.E., Mortensen, K.H., Gravholt, C.H., Turner syndrome and clinical treatment (2008) Br Med Bull., 86, pp. 77-93 Baxter, L., Bryant, J., Cave, C.B., Milne, R., Recombinant growth hormone for children and adolescents with Turner syndrome (2007) Cochrane Database Syst Rev., 24. , CD003887 Held, K.R., Kerber, S., Kaminsky, E., Singh, S., Goetz, P., Seemanova, E., Mosaicism in 45,X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes? (1992) Hum Genet., 88, pp. 288-294 Rochiccioli, P., Tauber, M.T., Le syndrome de Turner: Une revolution (1992) Arch Fr Pédiatr, 49, pp. 153-155 Uzielli, M.L.G., Failli, M., Biondi, C., From chromosomes and genes to the discovery of Turner syndrome secrets (1993) Basic and Clinical Approach to Turner Syndrome, pp. 27-32. , In: Hibi I, Takano K, editors, Amsterdam: Elsevier Science Publishers B.V Viguetti, N.L., Maciel-Guerra, A.T., Baixa estatura na infância e síndro-me de Turner: Uma associação mais freqüente do que se supõe (1994) J Pediatr (Rio J), 70, pp. 172-174 Assumpção, J.G., (1998) Estudo De Seqüências Do Cromossomo Y Em Pacientes Com Distúrbios De Diferenciação Gonadal. Dissertação De Mestrado, , Instituto de Biologia, Universidade Estadual de Campinas Lam, W.F., Hau, W.L., Lam, T.S., Evaluation of referrals for genetic investigation of short stature in Hong Kong (2002) Clin Med J., 115, pp. 607-611 Carvalho, A.B., (2009) Fatores Associados Ao Encaminhamento De Pacientes Com Suspeita Clínica De Síndrome De Turner a Um Service Universitário De Referência, , Dissertação de Mestrado, Faculdade Ciências Médicas, Universidade Estadual de Campinas Maciel-Guerra, A.T., (1998) A Evolução Dos Diagnósticos Clínico E Citogenético Da Síndrome De Turner: Cherchez La Petite Fille. Tese De Livredocência, , Faculdade de Ciências Médicas, Universidade Estadual de Campinas Fernández, R., Méndez, J., Pássaro, E., Turner syndrome: A study of chromosomal mosaicism (1996) Hum Genet., 98, pp. 29-35 Beiguelman, B., (1982) As Cromossomopatias Autossômicas. In: Citogenética Humana, pp. 179-218. , Rio de Janeiro: Guanabara Koogan Viguetti-Campos, N.L., (1997) Estudo Da Seleção In Vitro De Linhagens 45,x Por Meio De Hibridização In Situ. Tese De Doutorado, , Instituto de Biologia, Universidade Estadual de Campinas Lemos-Marini, S.H.V., Morcillo, A.M., Baptista, M.T.M., Guerra-Junior, G., Maciel-Guerra, A.T., Spontaneous final height in Turner's syndrome in Brazil (2007) J Pediatr Endocrinol Metab., 20, pp. 1207-1214 Pelz, L., Timm, D., Eyermann, E., Hinkel, G.K., Kirchner, M., Verron, G., Body ́s height in Turner's syndrome (1982) Clin Genet., 22, pp. 62-66 Ranke, M.B., Pfluger, H., Rosendahl, W., Stubbe, P., Enders, H., Bierich, J.R., Turner syndrome: Spontaneous growth in 150 cases and review of the literature (1983) Eur J Pediatr., 141, pp. 81-88 Canto, P., Kofman-Alfaro, S., Jimenez, A.L., Soderlund, D., Barron, C., Reyes, E., Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences (2004) Cancer Genet Cytogenet., 150, pp. 70-72 Horn, L.C., Limbach, A., Hoepffner, W., Trobs, R.B., Keller, E., Froster, U.G., Histologic analysis of gonadal tissue in patients with UllrichTurner syndrome and derivative Y chromosomes (2005) Pediatr Dev Pathol., 8, pp. 197-203 Mazzanti, L., Cicognani, A., Baldazzi, L., Bergamaschi, R., Scarano, E., Strocchi, S., Gonadoblastoma in Turner syndrome and Y-chromosome-derived material (2005) Am J Med Genet., 135, pp. 150-154 Brant, W.O., Rajimwale, A., Lovell, M.A., Travers, S.H., Furness 3rd, P.D., Sorensen, M., Gonadoblastoma and Turner Syndrome (2006) J Urol., 175, pp. 1858-1860