Children's Genetic Diseases Syndromes

A child receives 23 pairs of chromosomes, one set from the mother and one from the father, for a total of 46 in all. There are many types of genetic diseases and syndromes that may be passed along to children.

Chromosomal Abnormalities

• Some children are born with more or less chromosomes than normal. Down Syndrome would be an example of this. These errors occur at conception and it is not yet understood what causes them.

Single Gene Defects

• Over 6000 single gene defects are believed to exist and occur in roughly one in 300 births. These occur from a dominant gene from one parent or a recessive gene passed down from both parents.

Multifactorial Disorders

• Genetic diseases sometimes do not follow an easy explanation. Multifactorial disorders are genetic syndromes that may be caused by a combination of genetic and environmental factors.

Genetic Counseling

• Parents known to be higher risk for having a child with a genetic disease may choose genetic counseling before conceiving to be made aware of the risks and anything that might be done to prevent the disease.

Testing

• Some genetic diseases are apparent via ultrasound before birth but others may not be diagnosed until the child is older and developmental delays become apparent.