What is Huntington’s Disease? Huntington’s disease is a progressive, inherited neurological disorder caused by a mutation (CAG repeat expansion) in the HTT gene. This mutation leads to the production of an abnormal form of the huntingtin protein, which gradually damages nerve cells in the brain. The condition follows an autosomal dominant inheritance pattern — meaning […]
What is Sickle Cell Anemia? Sickle cell anemia is a genetic blood disorder caused by a mutation in the HBB gene, which leads to the production of abnormal hemoglobin called hemoglobin S. This abnormal hemoglobin causes red blood cells to become rigid and shaped like a crescent or sickle, reducing their ability to carry oxygen […]
What is Thalassemia? Thalassemia is a genetic blood disorder that affects the body’s ability to produce hemoglobin — the protein in red blood cells that carries oxygen. It is caused by mutations in the HBB gene (for beta-thalassemia) or genes controlling the production of alpha-globin (for alpha-thalassemia). The severity of thalassemia can range from mild […]
What is Cystic Fibrosis? Cystic fibrosis is a genetic disorder caused by mutations in the CFTR gene. These mutations lead to the production of thick, sticky mucus that can clog the lungs and block the pancreas, affecting breathing and digestion. CF is inherited in an autosomal recessive pattern, meaning a child must inherit two defective […]
What is Patau Syndrome (Trisomy 13)? Patau Syndrome is a chromosomal disorder caused by the presence of an extra chromosome 13 in a person’s cells. Instead of the typical 46 chromosomes, affected individuals have 47 chromosomes. Key Characteristics Symptoms and Health Concerns Physical Neurological Medical Risks Diagnosis Prenatal Postnatal Prevention & Risk Reduction Patau Syndrome […]
What is Edwards Syndrome (Trisomy 18)? Edwards Syndrome is a chromosomal disorder caused by the presence of an extra chromosome 18 in a person’s cells. Instead of the typical 46 chromosomes, affected individuals have 47 chromosomes. Key Characteristics Symptoms and Health Concerns Physical Neurological Medical Risks Diagnosis Prenatal Postnatal Prevention & Risk Reduction Edwards Syndrome […]
What is Klinefelter Syndrome (XXY)? Klinefelter Syndrome is a chromosomal condition that occurs in males when they have an extra X chromosome. Instead of the typical male karyotype 46,XY, individuals with Klinefelter Syndrome have 47,XXY. Key Characteristics Symptoms and Health Concerns Reproductive and Hormonal Cognitive and Behavioral Medical Risks Diagnosis Prenatal Postnatal Prevention & Risk […]
What is Turner Syndrome? Turner Syndrome (TS) is a genetic condition that affects females. It occurs when one of the two X chromosomes is completely or partially missing. Normally, females have two X chromosomes (46,XX), but in Turner Syndrome, the karyotype is usually 45,X or includes other structural abnormalities of the X chromosome. Key Characteristics […]
What is Down Syndrome? Down Syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. Instead of having the usual two copies, individuals with Down Syndrome have three copies (Trisomy 21). Key Characteristics Common physical traits include: Symptoms and Health Concerns Cognitive Development Medical Conditions Diagnosis Prenatal Screening Postnatal […]