Mosaic Trisomy 5: Prenatal Genetic Diagnosis and Outcomes of a New Case.

Chromosomal mosaicism is defined as the presence of two or more different cell lines in an organism that originate from the same embryo. Trisomy of chromosome 5 is one of the most severe forms of autosomal trisomy and only seven cases of mosaic trisomy 5 have been reported to date. Mosaicism at prenatal level constitutes a challenge in genetic counseling, particularly in the case of mosaic trisomy 5, due to its low incidence. We report the case of a girl with a prenatal diagnosis of mosaic trisomy 5. The pre- and postnatal genetic tests (noninvasive prenatal testing, array comparative genomic hybridization, karyotype in amniotic fluid cells, karyotype in peripheral blood, and uniparental disomy analysis) revealed the fetal chromosomal status and indicated etiology giving rise to the mosaicism, suggesting a prezygotic meiotic error corrected through late trisomic rescue in the zygote.

Anomalías de la diferenciación sexual: a propósito de un caso / Anomalies of sexual differentiation: presentation of a case

Las disgenesias gonadales mixtas (DGM) son trastornos de la diferenciación sexual poco frecuentes, pero constituyen una causa importante de infertilidad. Presentan un cariotipo en mosaico con fórmula mos 45,X/46,XY y pueden dar lugar a gran variedad de fenotipos, encontrando desde diferentes grados de ambigüedad sexual en recién nacidos, hasta fenotipos masculinos normales, fenotipos femeninos normales o fenotipos del síndrome de Turner (ST). Se presenta el caso de una paciente diagnosticada de ST desde la pubertad a quien no se le detectó la presencia de fragmentos de cromosoma Y. Teniendo en cuenta que las pacientes diagnosticadas de ST con expresión de cromosoma Y (completo o parcial) tienen mayor riesgo de desarrollar gonadoblastoma, es importante resaltar la importancia de diagnosticar la presencia de cromosoma Y, recomendando incluso realizar de forma sistemática técnicas que aumenten la sensibilidad para detectarlo aunque no se haya detectado en el cariotipo

Mixed gonadal dysgenesis is a group of rare disorders of sexual differentiation and is a major cause of infertility. They show a mosaic karyotype 45,X/46,XY and can give rise to a great variety of phenotypes, finding from different degrees of sexual ambiguity in newborns, up to normal male phenotypes, normal female phenotypes or Turner syndrome (TS) phenotypes. The case is presented of a patient diagnosed with TS from puberty and in whom the presence of fragments of Y chromosome was not detected. Given that patients with a diagnosis of TS with Y chromosome expression (full or partial) are at increased risk of developing gonadoblastoma, it is important to emphasise the importance of diagnosing the presence of the Y chromosome, and even recommending systematically performing techniques that increase the sensitivity in order to detect it, even though it has not been detected in the karyotype

The Effect of Moderate- Versus High-Intensity Resistance Training on Systemic Redox State and DNA Damage in Healthy Older Women.

This study investigated effects of a 16-week progressive resistance training program (RTP) with elastic bands at two different intensities on systemic redox state, DNA damage, and physical function in healthy older women. METHODS: Participants were randomly assigned to the high-intensity group (HIGH; n = 39), moderate-intensity group (MOD; n = 31), or control group (CG; n = 23). The exercise groups performed an RTP twice a week with three to four sets of 6 (HIGH) or 15 (MOD) repetitions of six overall body exercises at a perceived exertion rate of 8-9 on the OMNI-Resistance Exercise Scale for use with elastic bands. Thiol redox state was determined by reduced glutathione (GSH), oxidized glutathione (GSSG), and GSSG/GSH in blood mononuclear cells. Degree of DNA damage was assessed by presence of the oxidized DNA base molecule 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-OHdG) in urine. Physical function monitoring was based on the arm curl, chair stand, up and go, and 6-min walk tests. RESULTS: The HIGH group showed a significant increase in 8-OHdG (+71.07%, effect size [ES] = 1.12) and a significant decrease in GSH (-10.91, ES = -0.69), while the MOD group showed a significant decrease in 8-OHdG levels (-25.66%, ES = -0.69) with no changes in thiol redox state. GSH levels differed significantly between the HIGH and CG groups posttest. The exercise groups showed significant improvements in physical function with no differences between groups. CONCLUSION: RTP at a moderate rather than high intensity may be a better strategy to reduce DNA damage in healthy older women while also increasing independence.