mikrodeleciós

Mikrodeleciós refers to a type of chromosomal abnormality characterized by the loss of a small segment of a chromosome. These deletions are often too small to be detected by standard chromosomal analysis techniques such as karyotyping, hence the prefix "mikro" (micro). They are typically identified using more advanced methods like comparative genomic hybridization (CGH) or chromosomal microarray analysis (CMA).

Mikrodeleciós can occur spontaneously during the formation of sperm or egg cells, or they can be inherited from a parent. The consequences of a mikrodeleciós vary widely depending on the specific genes located within the deleted region. Some mikrodeleciós can lead to specific genetic syndromes, while others may have no apparent effect on an individual's health or development.

Symptoms associated with mikrodeleciós can include intellectual disability, developmental delays, distinctive facial features, and an increased risk of certain medical conditions. The genetic basis of many disorders is now understood to involve these small chromosomal losses. Diagnosis is crucial for genetic counseling, prognosis, and management of associated health issues. Research continues to identify new mikrodeleciós and their associated phenotypes, improving our understanding of the human genome and its impact on health.