Genetics and Birth Defects

Beating Bad Genes

If you have a parent or sibling with heart disease, cancer or another possibly inherited ailment, does that mean you're doomed to the same fate? The answers will surprise you. What You Can Do to Beat the Odds ›

Cerebral Palsy

Cerebral palsy (CP) is a broad term that describes a group of neurological (brain) disorders. It is a life-long condition that affects the communication between the brain and the muscles, causing a permanent state of uncoordinated movement and posturing. CP may result from several problems, such as lack of oxygen to the brain, genetic conditions, infections, brain hemorrhage, severe cases of jaundice, and injury to the head.

Many cases of CP have unknown causes. The disorder occurs when there is abnormal development or damage to areas in the brain that control motor function. It occurs in approximately three out of every 1,000 live births. Risk factors for CP include the following:

How cerebral palsy affect muscles and movement

Turner Syndrome

The term monosomy is used to describe the absence of one member of a pair of chromosomes. Therefore, there is a total of 45 chromosomes in each cell of the body, rather than 46. For example, if a baby is born with only one X sex chromosome, rather than the usual pair (either two X's or one X and one Y sex chromosome), the baby would be said to have "monosomy X." Monosomy X is also known as Turner syndrome.

Turner syndrome is a genetic disorder that occurs in girls. It causes them to be shorter than others and to not undergo normal puberty as they grow into adulthood. The severity of these problems varies among affected individuals. Other health problems may also be present involving the heart or renal system (i.e., kidneys). Many of the health problems affecting girls with Turner syndrome can be managed or corrected with appropriate medical treatment. Turner syndrome occurs in approximately 1 in 2,000 to 2,500 females born.

Understanding Turner Syndrome

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Preventing Birth Defects

Folic acid, or folate, is a B vitamin. The word folate comes from folium the Latin word for leaf. Folate occurs naturally in food, particularly in dark, green leafy vegetables, while folic acid is the synthetic form supplied in multivitamins and foods fortified with folic acid. Researchers discovered folate’s importance in preventing anemia about 70 years ago, but only in recent years have they learned of the link between folate deficiency and certain birth defects. Folic Acid Helps Prevent Birth Defects ›

Prepare for Genetic Counseling

Genetic counseling is a professional assessment of a person's or couple's risk factors regarding their family history, medical history, and/or pregnancy history. The goal of genetic counseling is not only risk assessment, but also to explain the cause and inheritance of a disorder, the availability of testing, the prognosis, medical management, and treatment. Search HealthGrades for Top Rated Local Medical Geneticists ›


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