Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.
Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene’s instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.
You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.
There are three types of genetic disorders:
Genetic tests on blood and other tissue can identify genetic disorders.
NIH: National Library of Medicine
Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female’s cells. Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most females with triple X syndrome have normal sexual development and are able to conceive children.Triple X syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), and behavioral and emotional difficulties are also possible, but these characteristics vary widely among affected girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females.