Cytogenetic profile of 8664 karyotypes in a population with suspected chromosomal abnormalities in Mexico




César H. Cerda-Mireles, Laboratorio de Citogenética Molecular, Centro de Investigación Biomédica del Noreste, Instituto Mexicano del Seguro Social, Monterrey, Nuevo León, México
Perla S. Sandoval-Mejía, Laboratorio de Citogenética Molecular, Centro de Investigación Biomédica del Noreste, Instituto Mexicano del Seguro Social, Monterrey, Nuevo León, México
Elva I. Cortés-Gutiérrez, Facultad de Ciencias Biológicas, Universidad Autónoma de Nuevo León, San Nicolás de los Garza, Nuevo León, México
Norma Romero-García, Laboratorio de Citogenética Molecular, Centro de Investigación Biomédica del Noreste, Instituto Mexicano del Seguro Social, Monterrey, Nuevo León, México
Ricardo M. Cerda-Flores, Facultad de Enfermería, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, México
Catalina García-Vielma, Laboratorio de Citogenética Molecular, Centro de Investigación Biomédica del Noreste, Instituto Mexicano del Seguro Social, Monterrey, Nuevo León, México


Background: Alterations in the number or structure of chromosomes are called chromosomal abnormalities. They are associated with malformations, known chromosomal syndromes, global developmental delay, sterility, infertility, habitual miscarriage and intellectual disability, among others. Early diagnosis allows, in some cases, to provide timely therapies and treatments that prevent complications for the patient, reducing costs for healthcare systems. Objective: To determine the cytogenetic profile in a selected population of the Mexican Social Security Institute in Northeast Mexico during the period 1985-2021. Materials and methods: Results of 8,664 peripheral blood karyotypes with GTG bands from patients with suspected chromosomal abnormalities were collected, and the percentage of each abnormality was determined. The results were compared with the global distribution. Results: Chromosomal abnormalities were found in 20% of cases, similar to those reported in previous studies in Mexican and international populations. Conclusions: This study is one of the few studies conducted worldwide and in Mexico, and highlights the importance of cytogenetic studies in patients with suspected chromosomal abnormalities to provide genetic counseling and timely treatment.



Keywords: Karyotype. Chromosomal abnormalities. Chromosomopathies. Cytogenetics. Mexico.




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