Genetic Disorders

Marfan Syndrome

A genetic disorder caused by a defective protein in connective tissue, resulting in heart and bone defects and long, slender limbs. Inheritance: Autosomal dominant.

Sickle Cell Anemia

A genetic disorder caused by an abnormal hemoglobin protein in red blood cells, leading to sickle-shaped red blood cells that cause pain and organ damage. Inheritance: Autosomal recessive.

Vitamin D-resistant rickets

A genetic disorder caused by a mutation affecting bone mineral absorption, leading to soft bones and skeletal deformities. Inheritance: X-linked dominant.

Hemophilia A

A genetic disorder caused by reduced activity of a protein necessary for blood clotting, leading to excessive bleeding. Inheritance: X-linked recessive.

Nondisjunction

An error during meiosis where chromosomes fail to separate properly, causing gametes with abnormal numbers of chromosomes, which can lead to chromosomal disorders.

Down Syndrome

A chromosomal disorder caused by an extra copy of chromosome 21 (trisomy 21), resulting in developmental delays and distinctive facial features.

Turner Syndrome

A chromosomal disorder where a female has only one X chromosome (XO), leading to short stature and infertility.

Triple X Syndrome

A chromosomal disorder where a female has three X chromosomes (XXX), resulting in mild developmental delays and menstrual irregularities.

Klinefelter Syndrome

A chromosomal disorder where a male has an extra X chromosome (XXY), leading to problems with sexual development and low testosterone levels.

Genetic Counseling

A service that provides information and guidance to individuals or families with a history of genetic disorders regarding the risks of inheriting genetic conditions.

Prenatal Testing

Methods, such as amniocentesis, that allow doctors to examine fetal chromosomes to detect genetic abnormalities before birth.

Gene Therapy

A treatment approach that involves inserting normal genes into cells with mutant genes to correct genetic disorders.

Dominant Mutations

Mutant dominant alleles that cause disorders appearing in individuals who inherit even one copy of the allele, but may disappear if they cause early death.

Recessive Mutations

Alleles that are not expressed in individuals with one copy (carriers) and can be passed to offspring, maintaining the allele in the population.