Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms

Abstract

Background: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnose birth defects, genetic disorders, and infertility, among other complex phenotypes, in individuals across a wide range of ages. Hence, the present study wants to contribute to the knowledge of type and frequency of chromosomal alterations and polymorphisms in Ecuador. Methods: Cytogenetic registers from different Ecuadorian provinces have been merged and analyzed to construct an open-access national registry of chromosome alterations and polymorphisms. Results: Of 28,806 karyotypes analyzed, 6,008 (20.9%) exhibited alterations. Down syndrome was the most frequent autosome alteration (88.28%), followed by Turner syndrome (60.50%), a gonosome aneuploidy. A recurrent high percentage of Down syndrome mosaicism (7.45%) reported here, as well as by previous Ecuadorian preliminary registries, could be associated with geographic location and admixed ancestral composition. Translocations (2.46%) and polymorphisms (7.84%) were not as numerous as autosomopathies (64.33%) and gonosomopathies (25.37%).Complementary to conventional cytogenetics tests, molecular tools have allowed

Multicenter Analysis on Morbidity, Mortality, and Medical Care in Neonates at the Hospital Gineco Obstétrico Isidro Ayora, Hospital General Docente de Calderón, and Hospital Gineco Obstétrico Pediátrico de Nueva Aurora Luz Elena Arismendi, January 2008 - June 2024, Quito-Ecuador (clinical research design protocol)

“…Additionally, advances have been made in identifying and characterizing specific genes associated with certain congenital disorders. [7–9] However, there are pathologies that are more common in certain populations, therefore, a detailed characterization of congenital malformations presented in neonates born at the Hospital Gineco Obstétrico Isidro Ayora (HGOIA), Hospital General Docente de Calderón (HGDC), and Hospital Gineco Obstétrico Pediátrico de Nueva Aurora Luz Elena Arismendi (HGONA), along with their risk factors and demographic characteristics, is necessary.…”

Hypothyroidism and growth hormone deficiency as a complication of Turner Syndrome: Case Report

“…(2) En Ecuador estudios actuales han estimado cifras relativamente bajas en cuanto a pacientes diagnosticados de la enfermedad, no obstante un análisis multiinstitucional sobre diagnóstico genético demostró un 60,50 % de alteraciones genéticas compatibles con ST en 28 806 cariotipos. (3) En cuanto a su patogenia, al denominarse una enfermedad multisistémica es poco conocida, y múltiples estudios demuestran su alteración en el gen 45X; así como, una relación estrecha entre la aparición del gen Homeobox con la baja estatura, anomalías musculoesqueléticas y trastornos neuroendocrinos. (4) Por otra parte, la presencia de genes patógenos como: TIMP3 y TIMP1 pueden estar implicados en la mayoría de anormalidades cardíacas congénitas.…”

Variantes citogenéticas en pacientes con síndrome de Turner diagnosticadas en un hospital de tercer nivel de atención en Ecuador

“…Además, los resultados son consistentes con los de estudios previos realizados en México, Argentina, Chile y Colombia, que informaron que la monosomía 45,X es el cariotipo más común asociado. Por esta razón, la presente investigación se enfocará en conocer la correlación entre las características genotípicas y fenotípicas en pacientes con síndrome de Turner, y además aportará información a la estadística nacional 5 .…”