A5051290985- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomic variations and chromosomal abnormalities
- Silkworms and Sericulture Research
- Discrimination and Equality Law
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Law, AI, and Intellectual Property
Hospital de Especialidades
2022
Abstract Background Detection of chromosomal abnormalities is crucial in various medical areas; to diagnose birth defects, genetic disorders, and infertility, among other complex phenotypes, individuals across a wide range ages. Hence, the present study wants contribute knowledge type frequency alterations polymorphisms Ecuador. Methods Cytogenetic registers from different Ecuadorian provinces have been merged analyzed construct an open‐access national registry chromosome polymorphisms....
The coexistence of double aneuploidy Down and Turner syndromes is rare; most cases have been due to mitotic errors.The objective the study was report a case with monosomy X chromosome trisomy 21, in mosaic variety, highlighting phenotypic effect that presence different chromosomal abnormalities can produce compare those reported literature.A 10-year-old Ecuadorian female, born multipregnant mother 46 years at conception, seen consultation predominant clinical phenotype syndrome, associated...
Introducción: El Síndrome de Turner (ST) es una alteración cromosómica sexual causada por la ausencia parcial o completa del cromosoma X, además mosaicismos y otras alteraciones estructurales X Y; está presente en 1 2500 nacidas vivas.Objetivo: Describir las variantes citogenéticas pacientes con síndrome evaluar su asociación el fenotipo presentación edad diagnóstico.Método: Estudio retrospectivo corte transversal serie 82 casos Turner.Los cariotipos fueron realizados utilizando medio...