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One of two paired genes at a particular location on a chromosome. Different alleles produce variations in inherited traits.
A group of 20 different kinds of small molecules that link together in long chains to form proteins. They are often referred to as the “building blocks” of proteins.
Amniocentesis is a procedure where a sample of amniotic fluid (the fluid around the baby) is removed from the uterus and sent to a laboratory for evaluation. The fluid is evaluated for chromosomal and other genetic abnormalties. Amniocentesis is performed by inserting a thin needle through the woman's abdomen into the uterus (womb) and withdrawing a small amount of fluid.
A type of protein made by certain white blood cells in response to a foreign substance in the body (antigen). Some antibodies destroy antigens directly. Others make it easier for other white blood cells to destroy the antigens.
Any substance that stimulates the immune system. Antigens are often foreign substances such as bacteria or viruses that invade the body.
the loss of the ability to comprehend and use words
abnormal heart beat rhythms
The area od the heart where blood is collected when it returns from the body or lungs. Normally people are born with a left and right atrium.
decreased muscle size
An antibody that acts against a person's own tissues.
Illnesses that occur when a person's body tissues are attacked by its own immune system. The immune system is designed to find and destroy foreign invaders of the body. Patients with autoimmune diseases have unusual antibodies in their blood that target their own body tissues.
A mode of inheritance when an affected individual must possess one copy of a non-working gene and one copy of a normal gene. Males and females have an equally likely chance of inheriting the mutated gene and of being affected. The recurrance risk of each child of an affected parent is 50%.
A mode of inheritance where an affected individual must possess two copies of a non-working gene, one from each parent. Without both copies, the person will not be affected with the disease. What this means is that most children with these types of diseases will have unaffected parents. Males and females are equally likely to be affected. The recurrence risk of each child of an affected parent is 25%.
|autosomal recessive pattern||
The disease is passed on to a child by both parents who have an abnormal gene when the child is conceived.
Single cell microorganisms that can live as either independent organisms or as parasites in another organisms.