Genetic Disorders and Translocations

Flashcards covering key genetic disorders, chromosomal abnormalities, and diagnostic methods from lecture notes.

Chronic Myelogenous Leukemia (CML)

A type of cancer that affects the blood and bone marrow, characterized by the Philadelphia Chromosome (translocation 9:22).

Philadelphia Chromosome

An abnormal chromosome produced by a translocation between chromosome 9 and 22, often associated with CML.

Ewing Sarcoma

A type of cancer that occurs in the bones or soft tissues, often involving a translocation involving chromosome 11 and 22.

Acute Lymphoblastic Leukemia (ALL)

A cancer of the blood and bone marrow characterized by an abundance of immature white blood cells, often associated with translocation involving 9:22.

Follicular Lymphoma (FL)

A type of slow-growing non-Hodgkin lymphoma often associated with a translocation involving chromosome 14 and the BCL2 gene.

Burkitt Lymphoma (BL)

A highly aggressive form of non-Hodgkin lymphoma associated with a translocation involving chromosome 8 (c-myc) and 14.

Mantle Cell Lymphoma (MCL)

A type of non-Hodgkin lymphoma characterized by a translocation involving chromosome 11 and 14, leading to increased expression of cyclin D1 (CCND1).

Rhabdomyosarcoma (RMS/ARMS)

A malignant tumor of mesenchymal origin that often involves genetic translocations affecting growth factors, commonly involving chromosomes 1 and 13.

Tumor Protein 53 (Tp53)

A tumor suppressor gene that plays a crucial role in regulating the cell cycle and preventing cancer, mutations are found in many cancers.

BRCA1/2 Genes

Genes associated with DNA repair that, when mutated, significantly increase the risk of developing breast and ovarian cancers.

Cystic Fibrosis (CF)

A genetic disorder caused by mutations in the CFTR gene, leading to thickened secretions and affecting multiple organ systems.

Fragile X Syndrome

A genetic condition causing intellectual disability, associated with expansions of CGG repeats in the FMR1 gene on the X chromosome.

Factor V Leiden

A genetic mutation that increases the risk of blood clots due to a defect in the clotting factor V.

Ataxia Telangiectasia (ATM)

A rare genetic disorder that affects the nervous system and immune system, caused by mutations in the ATM gene.