GENETICS

Next-generation sequencing (NGS) is a powerful and versatile genomic technology used for high-throughput DNA and RNA sequencing. Its applications in pediatrics are expanding due to its ability to provide precise genetic diagnoses. What is Next-generation sequencing NGS? NGS refers to advanced sequencing technologies that allow parallel sequencing of millions of DNA fragments. This technology provides […]

Definition of Translocation: Translocation refers to a chromosomal abnormality where a piece of one chromosome breaks off and attaches to another chromosome. This rearrangement can lead to genetic disorders if it disrupts normal gene function or regulation. Inheritance Pattern for Translocations: The inheritance pattern can vary depending on whether it is balanced or unbalanced: Clinical

Genetic imprinting disorders are a group of conditions caused by the abnormal expression of genes that are imprinted, meaning they are expressed only from either the maternal or paternal allele, not both. These disorders result from errors in the process of imprinting or in the maintenance of imprinting over generations. Here are some key disorders

The primary and secondary prevention of genetic disorders emphasize strategies to reduce the burden of genetic disorders through proactive interventions. Primary Prevention Primary prevention aims to avoid the occurrence of genetic disorders by minimizing the risk factors and preventing the transmission of genetic defects. Secondary Prevention Secondary prevention focuses on early detection and intervention to

Turner syndrome is a genetic condition that affects females and results from a complete or partial absence of one of the two X chromosomes. The genotypic and phenotypic features of Turner syndrome are as follows: Genotypic Features: Phenotypic Features:

Gene therapy is an evolving field in pediatric medicine, offering the potential for curing or significantly altering the course of genetic disorders. Definition and Principles of Gene Therapy Gene therapy involves modifying or manipulating the expression of a gene or altering the biological properties of living cells for therapeutic purposes. It includes: Applications in Pediatrics

Characteristics of Autosomal Recessive Inheritance Pedigree Chart Illustration Below is a brief description of an autosomal recessive pedigree: