Duplications
What are Duplications? A duplication is a chromosomal abnormality where a segment of DNA is copied one or more times, resulting in extra genetic material. Key Features Common Health Implications How to Reduce the Risk
Deletions
What are Deletions? A deletion is a chromosomal abnormality where a segment of DNA is missing. This results in the loss of one or more genes, which can disrupt normal development and cause genetic disorders. Key Features Common Health Implications How to Reduce the Risk
Inversions
What are Inversions? An inversion is a type of chromosomal structural rearrangement where a chromosome segment breaks off, flips around (inverts), and reattaches in the reverse orientation. Key Features Common Health Implications How to Reduce the Risk
Balanced / Unbalanced Translocations
What are Balanced / Unbalanced Translocations? A chromosomal translocation occurs when a segment of one chromosome breaks off and attaches to another chromosome. Key Features Common Health Implications How to Reduce the Risk
BRCA1 / BRCA2 Mutations
What are BRCA1 / BRCA2 Mutations? BRCA1 and BRCA2 are tumor suppressor genes that help repair damaged DNA and maintain genetic stability. Mutations in these genes can lead to impaired DNA repair, significantly increasing the risk of developing certain cancers, particularly breast and ovarian cancer. These mutations are inherited in an autosomal dominant pattern, meaning […]
Tay-Sachs Disease
What is Tay-Sachs Disease? Tay-Sachs disease is a rare, inherited genetic disorder caused by mutations in the HEXA gene, which leads to a deficiency of the enzyme hexosaminidase A. Without this enzyme, harmful fatty substances (GM2 gangliosides) accumulate in the nerve cells of the brain and spinal cord, leading to progressive neurological damage. It is […]
Duchenne Muscular Dystrophy (DMD)
What is Duchenne Muscular Dystrophy? Duchenne muscular dystrophy is a severe, progressive genetic disorder that primarily affects boys, caused by mutations in the DMD gene on the X chromosome. This gene is responsible for producing dystrophin, a protein essential for muscle fiber stability and function. Without functional dystrophin, muscles gradually weaken and degenerate. DMD follows […]
Fragile X Syndrome
What is Fragile X Syndrome? Fragile X syndrome is a genetic condition caused by a mutation (CGG repeat expansion) in the FMR1 gene on the X chromosome. This mutation leads to a lack of production or a reduction of the fragile X mental retardation protein (FMRP), which is essential for normal brain development. It is […]
Huntington’s Disease
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 […]
Sickle Cell Anemia
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 […]