Cytogenetic diagnosis in a patient affected by intellectual disability in Portuguesa State, Venezuela
Keywords:
INTELLECTUAL DISABILITY, CYTOGENETIC ANALYSIS, KARYOTYPE, CHROMOSOME, TRANSLOCATION, GENETIC.Abstract
Introduction: chromosomal alterations both in number and structure are an important cause of morbidity and mortality. They affect approximately one out of every two-hundred live newborns, being the main cause of intellectual disability.
Objective: to describe the cytogenetic diagnosis in a patient affected with intellectual disability.
Case report: a 6-year-old child who was taken for genetic counseling due to intellectual disability, dysmorphias and short small height. Genetic clinical history was taken; clinical method and cytogenetic diagnosis were applied; GTG chromosome banding was applied and 25 metaphases were analyzed. A structural chromosomal aberration (complex translocation) was diagnosed in 25 metaphases studied, showing the presence of four (4) autosomal chromosomes involved and the breakpoints: 46,XX, t(7;10;14;18)(p22;q11.1;q31;q11.1).
Conclusions: the study made possible to provide a diagnosis, define the risk of recurrence in the offspring and improve treatment, supporting the importance of genetic counseling which is a significant tool at primary health care level.
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1. Esparza-García E, Cárdenas-Conejo A, Huicochea Montiel JC, Aráujo-Solís MA. Cromosomas, cromosomopatías y su diagnóstico. Rev Mex Pediatr. [Internet] 2017 [Citado 15/09/2019]; 84(1): [Aprox. 9 p.]. Disponible en: https://www.medigraphic.com/pdfs/pediat/sp-2017/sp171g.pdf
2. Cáceres Marzal C. Trastornos neurológicos y del neurodesarrollo asociados a las cromosomopatías estructurales no balanceadas. Tesis de Grado. Universidad de Extremadura; 2016.
3. Mazzi Gonzales de Prada E. Defectos congénitos. Rev Soc Bol Ped [Internet] 2015 [Citado 15/09/2019]; 54(3): [Aprox. 11 p.]. Disponible en: http://www.scielo.org.bo/pdf/rbp/v54n3/v54n3_a06.pdf
4. Armas García LE, Gómez Valencia L, García Días AD, Cortes Viayra AC, Leal Soriano K, Salas García R. Análisis retrospectivo de anomalías cromosómicas de tipo numéricas en pacientes del Hospital Regional de Alta Especialidad del Niño “Dr. Rodolfo Nieto Padrón (2005-2015). Rev Salud Pública y Nutrición. [Internet] 2016 oct- dic [Citado 15/09/2019]; 15(4): [Aprox. 8 p.]. Disponible en: https://www.medigraphic.com/pdfs/revsalpubnut/spn-2016/spn164a.pdf
5. Espinosa Álvarez DC, Guerrero Jordán D, Fernández Castillo O. Los marcadores cromosómicos, un reto de la genética contemporánea. Multimed. [Internet] 2014 [Citado 05/08/2019]; 18(1): [Aprox. 7p.]. Disponible en: http://www.multimedgrm.sld.cu/Documentos%20pdf/Volumen18-1/13.pdf
6. Quiñones OL, Quintana J, Mendez LA, Barrios A, Suarez U, García M, Del Sol M. Frecuencias de reordenamientos cromosómicos estructurales acorde a las indicaciones para estudios citogenéticos prenatales y postnatales. Rev Cubana Genét Comunit. [Internet] 2010 [Citado 15/09/2019]; 4(3): [Aprox. 7 p.]. Disponible en: http://bvs.sld.cu/revistas/rcgc/v4n3/rcgc060310.pdf
7. Luna-Barrón B, Taboada-López G, Siacar-Bacarreza S, Lafuente-Álvarez E, Rada-Tarifa A, Darinka Contreras-Castro T, et al. Trisomía 9: reporte de un caso. Revista Cuadernos. [Internet] 2019 [Citado 15/09/2019]; 60(1): [Aprox. 4 p.]. Disponible en: http://www.scielo.org.bo/pdf/chc/v60n1/v60n1_a06.pdf
8. Contreras-Castro DT, Luna-Barrón B, Taboada-López G, Tarifa AR, Lafuente Álvarez E. Frecuencia de aberraciones cromosómicas en pacientes del Instituto de Genética -UMSA período 2011- 2015. Cuad. Hosp. Clín. 2017 [Citado 15/09/2019]; 58(2): 14-19. https://pesquisa.bvsalud.org/portal/resource/pt/biblio-972853
9. Díaz-Cuéllar S, Yokoyama-Rebollar E, Del Castillo-Ruiz V. Genomics of Down syndrome. Rev Acta Pediatr Mex. [Internet] 2016 sep [Citado 15/09/2019]; 37(5): [Aprox. 8 p.]. Disponible en: https://www.medigraphic.com/pdfs/actpedmex/apm-2016/apm165f.pdf
10. Mora AP, Paredes D, Rodríguez O, Quispe E, Chavesta F, Klein de Zihelboim E, et al. Anomalías cromosómicas en abortos espontáneos. Rev peru. ginecol. obstet. [Internet] 2016 [Citado 15/09/2019]; 62(2): [Aprox. 11 p.]. Disponible en: https://pesquisa.bvsalud.org/portal/resource/pt/biblio-1043227
11. Rodríguez Frías JP. Marcadores ecográficos para el diagnóstico de cromosomopatías: marcadores de primera y segunda línea en el tamizaje prenatal. Tesis Doctoral. Universidad Técnica de Manchala; 2017.
12. Saltos Mendieta JJ, Agudo Gonzabay BM. Importancia de la ecosonografía obstétrica como método screening de alteraciones cromosómicas en la gestación para prevenir la morbimortalidad fetal. Tesis Doctoral. Universidad Técnica de Manchala; 2019.
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