Empowering Parents with Knowledge and Tools to Navigate Genetic Disorders
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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. […]
Autosomal recessive inheritance refers to how some genetic changes, or rare diseases, are passed down from parents to their offspring. With autosomal recessive inheritance, the precise chromosomes affected are autosomal. This means the gene mutation responsible for causing an autosomal recessive rare disease or disorder, is located on one of the first 22 non-sex chromosomes. […]
Autosomal dominant inheritance is a type of genetic inheritance and it explains how a gene mutation is passed down from parent to child. When it comes to autosomal dominant inheritance, just one copy of the gene mutation is enough to cause the related rare disease or genetic syndrome. This consequently means that a child, with […]
X-linked inheritance means that a gene mutation occurs on the sex chromosomes. Females have two X sex chromosomes, males have one X and one Y sex chromosome. There are two main types of X-linked inheritance. A gene mutation inherited in an X-linked recessive pattern is located on the X chromosome. Because of the fact that […]
Chromosomal microdeletion syndromes are those caused by chromosomal deletions involving several genes. Chromosomal deletion occurs when parts of a chromosome (of which each cell of the body has 46, 23 pairs) are missing or deleted. Even the smallest part of a chromosome can contain many genes, and a deletion of this part of the chromosome […]
Chromosomal abnormalities are the cause of many rare diseases and other inherited diseases. These rare diseases often present with multiple symptoms, some of them congenital and present at birth, while others may develop later in childhood or adulthood. There are two main types of chromosomal abnormalities -numerical and structural. What are numerical chromosomal abnormalities? Each of […]
The symptoms of Tay-Sachs are a set of symptoms unique to this individual genetic syndrome. Tay-Sachs is a genetic syndrome, also known as a rare disease. It is usually identified during infancy, and in many cases, it is fatal, with a life expectancy of no more than a few years following birth. Rare forms of […]
Single-gene disorders are some of the most well-known and researched rare diseases. This is because their causes are easily understood, and how they are inherited is considered to be very clear and simple. With single-gene disorders, the precise gene mutation that causes them is known, and the mutation occurs in one single gene. The other […]
Genetic inheritance determines how gene mutations, and chromosomal abnormalities, are passed down from parent to child. How these mutations are inherited will determine a child’s risk factor for developing a rare disease, if one or both of their parents are carriers. The types of genetic inheritance determine if and how a rare disease is passed […]