Prevalência de mosaicismo cromossômico em 2.500 casos realizados em um laboratório de genética no Estado do Rio de Janeiro, Brasil

Mauricio Assis Rodrigues; Bianca Rodrigues Marques Peterle; Erick de Souza Costa; Antonio Francisco Alves da Silva; Patricia Damasceno Ribeiro

doi:10.19180/1809-2667.v22n32020p579-589

Autores/as

Mauricio Assis Rodrigues XY Diagnose Laboratório de Biotecnologia, Campos dos Goytacazes/RJ
Bianca Rodrigues Marques Peterle Universidade Federal do Espírito Santo (UFES), Vitória/ES
Erick de Souza Costa Bedalab Laboratório de Análises Clínicas, Campos dos Goytacazes/RJ
Antonio Francisco Alves da Silva XY Diagnose Laboratório de Biotecnologia, Campos dos Goytacazes/RJ
Patricia Damasceno Ribeiro XY Diagnose Laboratório de Biotecnologia, Campos dos Goytacazes/RJ

DOI:

https://doi.org/10.19180/1809-2667.v22n32020p579-589

Palabras clave:

Citogenética, Anomalías Cromosómicas, Mosaicismo Cromosómico, Genética

Resumen

El mosaico cromosómico se define como la presencia de dos o más líneas celulares con diferentes constituciones cromosómicas en el mismo individuo. El objetivo de este trabajo es analizar la prevalencia de mosaicos cromosómicos de 2.500 pacientes sometidos a estudio citogenético realizado en un laboratorio de genética ubicado en un municipio del Estado de Rio de Janeiro, del 04/2011 al 01/2020. De los 2.500 exámenes de cariotipo analizados, 19 presentaron mosaicos cromosómicos, 9 de los cuales eran mujeres, 8 hombres y 2 indefinidos. En cuanto al tipo, 14 casos fueron de anomalías numéricas y 5 casos de anomalías cromosómicas estructurales. La infertilidad fue la indicación clínica más prevalente, con un total de 7 pacientes. Entre los 19 casos en este estudio, 2 fueron publicados en revistas científicas. El mosaico cromosómico puede presentar líneas celulares con porcentajes muy variables. Para mayor seguridad, se sugiere contar un mayor número de células para aumentar la posibilidad de identificar estas anomalías.

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Biografía del autor/a

Mauricio Assis Rodrigues, XY Diagnose Laboratório de Biotecnologia, Campos dos Goytacazes/RJ

Coordenador do setor de Citogenética Humana do XY Diagnose Laboratório de Biotecnologia em Campos dos Goytacazes/RJ. Mestrando em Biociências e Biotecnologia na Universidade Estadual do Norte Fluminense Darcy Ribeiro (UENF) – Campos dos Goytacazes/RJ – Brasil. E-mail: mauricioassis@hotmail.com.
Bianca Rodrigues Marques Peterle, Universidade Federal do Espírito Santo (UFES), Vitória/ES

Professora no Centro Educacional Leonardo da Vinci. Mestrado profissional em Química no Instituto Federal Espírito Santo (IFES) Campus Vila Velha/ES – Brasil. E-mail: biancapeterle@yahoo.com.br.
Erick de Souza Costa, Bedalab Laboratório de Análises Clínicas, Campos dos Goytacazes/RJ

Supervisor técnico e gerente da qualidade do Bedalab Laboratório de Análises Clínicas em Campos dos Goytacazes/RJ. Pós-graduação em Análises Clínicas e Microbiologia pela Universidade Candido Mendes (UCAM) – Campos dos Goytacazes/RJ – Brasil. E-mail: ecosta_souza@hotmail.com.
Antonio Francisco Alves da Silva, XY Diagnose Laboratório de Biotecnologia, Campos dos Goytacazes/RJ

Referência técnica do Departamento de Genética Molecular do XY Diagnose Laboratório de Genética em Campos dos Goytacazes/RJ. Doutor (2016) em Biociências e Biotecnologia pela Universidade Estadual do Norte Fluminense Darcy Ribeiro (UENF) – Campos dos Goytacazes/RJ – Brasil. E-mail: antonio.alves@xydiagnose.com.br.
Patricia Damasceno Ribeiro, XY Diagnose Laboratório de Biotecnologia, Campos dos Goytacazes/RJ

Responsável técnico pelo XY Diagnose Laboratório de Biotecnologia em Campos dos Goytacazes/RJ, assessora científica da UTI Neonatal Nicola Albano e professora titular de Genética e Bioquímica da UNIG Campus V – Itaperuna/RJ. Doutora em Engenharia Genética (2003) pela Universidade Estadual do Norte Fluminense Darcy Ribeiro (UENF) – Campos dos Goytacazes/RJ – Brasil. E-mail: pd_ribeiro@hotmail.com.

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