Генетика человека и эмбриология

Introduction: Pregnancy in mosaic Turner Syndrome (TS) occurs relatively rarely. Phenotypes of mosaic TS and fertility outcomes may vary according to the degree of mosaicism.

Objective: Our study aimed to report the occurrence of spontaneous pregnancy in a case of mosaic TS and report recent recommendations in the matter of genetic counselling in that entity.

Results: A 31-year-old patient was referred for cytogenetic testing after three an embryonic pregnancies. She was measured at 155 cm and weighed 57 kg. Her menarche occurred at the age of 14 and her menstrual cycles were regular. She presented high-level anti-thyroperoxydase antibodies (600 IU/ml) and normal cardiologic evaluation (echocardiography and electrocardiogram). The karyotype revealed a mosaic turner syndrome, mos 45, X /46, XX. She presented after that evaluation with a spontaneous pregnancy with a negative blood screening for fetal aneuploidy at 14 weeks of pregnancy. Genetic counselling was performed and included options for future fertility, such as IVF, oocyte cryopreservation and Preimplantation Genetic Diagnosis (PGD). A healthy male infant was born at 39 weeks of gestation after caesarean surgery and precautious cardiac monitoring was performed during pregnancy.

Conclusion: Recurrent miscarriages and subtle short stature were the specific features of our clinical case. Genetic and fertility counselling were crucial for an adapted follow-up during the pregnancy and the establishment of strategies concerning future conceptions.

Telomeres play a crucial role in maintaining genomic stability, and their dynamics throughout the cell cycle are of immense interest in understanding cellular processes and diseases such as cancer. Conventional imaging techniques often fall short in capturing the intricate details of telomere changes during the cell cycle. However, recent advancements in 3D super-resolution imaging coupled with quantitative Fluorescence In Situ Hybridization (Q-FISH) have provided unprecedented insights into the dynamic behavior of telomeres. This article explores the significance of 3D super-resolution nuclear Q-FISH imaging in revealing cell cycle-related telomere changes, shedding light on its implications in cellular biology and disease pathology.

D. brymerianum, a unique orchid species renowned for its medicinal properties, presents challenges in accurate identification due to morphological similarities with other Dendrobium species. In this article, we delve into the recent advancements in chloroplast genome-wide analysis that have facilitated the discovery of novel Single-Nucleotide Polymorphism (SNP) resources. These resources significantly enhance the efficiency and accuracy of Amplification Refractory Mutation System quantitative PCR (ARMS-qPCR) in identifying D. brymerianum. We explore the implications of this methodology in botanical research, conservation efforts and pharmacological applications.

Pharmacogenetics, the study of how genetic variation influences an individual's response to drugs, holds immense promise for personalized medicine. However, analyzing pharmacogenetic data efficiently and accurately has posed challenges. In this article, we introduce a groundbreaking cloud-native tool designed to streamline pharmacogenetic analysis, revolutionizing drug development and patient care. Our tool incorporates cutting-edge algorithms for variant calling, genotype imputation, and pharmacogenetic association analysis. These algorithms are optimized for accuracy, speed, and scalability, allowing researchers to extract meaningful insights from genomic data.