Empowering Parents with Knowledge and Tools to Navigate Genetic Disorders
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Chromosome deletion syndromes are caused by deletions from parts of chromosomes. This means that parts of a chromosome are missing as a result of the deletion. Also known as chromosomal abnormalities these deletions can cause serious medical and health issues from birth. They can also cause severe intellectual disability. Chromosomal deletion abnormalities, including some of […]
Genes form the basis of all living organisms. Scientists once tested to see what was the smallest possible amount of genes necessary to sustain life. Starting with a microbe that had one of the smallest known genomes (complete sets of genetic instructions), they trimmed down the genes to 473. However, even at that relatively tiny […]
Williams syndrome is a genetic syndrome that presents with multiple symptoms. It is defined as a rare disease and occurs in just 1 in every 10,000 people. Symptoms of this rare disease affect multiple systems and parts of the body. The syndrome is caused by the deletion of specific genes from a very specific region […]
This rare disease is currently estimated to affect around half a million people worldwide. Its prevalence rate is currently 1 in every 15,000 live births. It is characterized by a wide range of symptoms from development delay, to seizures, and sleep issues. It is not believed to be an inheritable genetic disorder, although a sibling […]
Pitt-Hopkins is a genetic syndrome which is believed to occur in between 1-9 in every 1 million people. It is a rare disease. It is caused by mutations in the TCF4 gene, located on chromosome 18. It is not considered to be an inheritable condition, and the gene mutations that trigger it are new and […]
Ehlers-Danlos is a complicated genetic disorder, of which there are currently 13 major types identified. Ehlers-Danlos affects the connective tissue of the body. Connective tissue supports and structures the skin, blood, organs, bones, and blood vessels of the body. Ehlers-Danlos causes issues with collagen production, affecting multiple parts and systems of the body. Ehlers-Danlos is, […]
Recognized as one of the most common genetic syndromes, and chromosomal abnormality disorders, Down syndrome has a prevalence, in the US, of around 1 in every 700 live births. This makes it one of the most common genetic syndromes and the most well-known. Down syndrome occurs in individuals who develop an extra chromosome 21 – […]
Fragile X syndrome is a rare disease and a member of a recognized family of genetic disorders caused by the partial or complete mutation of a specific gene. In the case of Fragile X, this mutation affects the FMR1 gene. A complete mutation of the FMR1 gene causes Fragile X. This mutation prevents the production […]
Klinefelter is a rare disease that occurs in males. It is caused by the presence of an extra X chromosome, instead of XY chromosomes, affected individuals have XXY chromosomes. For this reason, the syndrome is also often known as XXY syndrome. There are three types of this genetic syndrome: Klinefelter is not an inherited condition. […]