Chromosomal analyses in genetic counseling of patients with developmental and congenital abnormalities from Belém, Pará State, Brazil: a retrospective study of 17 years

Michel Platini Caldas de Souza; Savio Monteiro dos Santos; Margarida Maria Celeira de Lima; Jacileia Maria Pereira Machado; Marta Maria Maia Melo; Edivaldo Herculano Corrêa de Oliveira; João Farias Guerreiro

doi:10.5123/S2176-6223201901597

Autores/as

Michel Platini Caldas de Souza Instituto Evandro Chagas, Seção de Meio Ambiente, Laboratório de Cultura de Tecidos e Citogenética, Ananindeua, Pará, Brasil
Savio Monteiro dos Santos Universidade Federal do Pará, Pró-Reitoria de Pesquisa e Pós-Graduação, Programa de Bolsas de Iniciação Científica, Belém, Pará, Brasil http://orcid.org/0000-0002-0927-9680
Margarida Maria Celeira de Lima Universidade Federal do Pará, Instituto de Ciências Biológicas, Laboratório de Biologia Molecular Francisco Mauro Salzano, Belém, Pará, Brasil http://orcid.org/0000-0001-8801-3583
Jacileia Maria Pereira Machado Universidade Federal do Pará, Instituto de Ciências Biológicas, Laboratório de Citogenética Humana e Clínica, Belém, Pará, Brasil
Marta Maria Maia Melo Universidade Federal do Pará, Instituto de Ciências Biológicas, Laboratório de Citogenética Humana e Clínica, Belém, Pará, Brasil
Edivaldo Herculano Corrêa de Oliveira Instituto Evandro Chagas, Seção de Meio Ambiente, Laboratório de Cultura de Tecidos e Citogenética, Ananindeua, Pará, Brasil; Universidade Federal do Pará, Instituto de Ciências Exatas e Naturais, Faculdade de Ciências Naturais, Belém, Pará, Brasil
João Farias Guerreiro Universidade Federal do Pará, Instituto de Ciências Biológicas, Laboratório de Citogenética Humana e Clínica, Belém, Pará, Brasil http://orcid.org/0000-0003-1979-3656

DOI:

https://doi.org/10.5123/S2176-6223201901597

Palabras clave:

Chromosome Disorders, Chromosome Banding, Congenital Abnormalities, Intellectual Disability, Cytogenetics

Resumen

ABSTRACT

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.

Keywords: Chromosome Disorders; Chromosome Banding; Congenital Abnormalities; Intellectual Disability; Cytogenetics