Chromosomal analyses in genetic counseling of patients with developmental and congenital abnormalities from Belém, Pará State, Brazil: a retrospective study of 17 years
Souza, Michel Platini Caldas de
Santos, Savio Monteiro dos
Lima, Margarida Maria Celeira de
Machado, Jacileia Maria Pereira
Melo, Marta Maria Maia
Oliveira, Edivaldo Herculano Corrêa de
Guerreiro, João Farias
OBJECTIVE: To present a retrospective study covering 17 years of referral of patients to a public clinical cytogenetic service in Belém, Pará State, located in the Brazilian Amazon. MATERIALS AND METHODS: This study was based on a retrospective survey conducted from 1997 to 2014, considering registered chromosome G-banding results and relating them to information collected during patient evaluation. RESULTS: From a total of 1,580 patients, 730 (46.2%) had chromosomal abnormalities, of which 637 (87.3%) showed numerical alterations. Abnormalities involving autosomal chromosomes were more frequent, 524/730 (71.8%), while alterations in sex chromosomes comprised 28.2% (206). Down's syndrome was the most frequent, 424 (58.1%) of cases, followed by 175 (24.0%) cases of Turner's syndrome, and 25 (3.4%) of Klinefelter's syndrome. Patients with sex chromosome abnormalities were referred at a more advanced age when compared with those having autosomal chromosome abnormalities, with peaks around 11–15 years old (30.1% of cases) and 0–6 months old (40.5%), respectively. CONCLUSION: These findings are very similar to other studies and draw attention to public measures to improve both the quality with regard to diagnosis and the subsequent care of the patient.
xmlui.dri2xhtml.METS-1.0.item-citationSOUZA, Michel Platini Caldas de et al. Chromosomal analyses in genetic counseling of patients with developmental and congenital abnormalities from Belém, Pará State, Brazil: a retrospective study of 17 years. Revista Pan-Amazônica de Saúde, v. 10, n. e201901597, 2019.
xmlui.dri2xhtml.METS-1.0.item-decsPrimaryCromossomos Humanos / genética
Análise Citogenética / métodos