5q133

The 5q133 locus refers to a specific region on the long arm (q) of chromosome 5, specifically band 13.3. This region has been implicated in various genetic conditions due to the genes located within it and its susceptibility to chromosomal rearrangements.

One of the most well-known conditions associated with the 5q13.3 locus is the 5q- syndrome, also known as MDS or myelodysplastic syndrome. This is a group of blood disorders characterized by ineffective production of blood cells, leading to anemia, low platelet counts, and an increased risk of developing acute myeloid leukemia. The 5q- syndrome is typically caused by a deletion in this chromosomal region.

Other genetic disorders and developmental abnormalities have also been linked to alterations within the 5q13.3 locus. These can include intellectual disability, congenital anomalies, and growth retardation, depending on the specific genes affected and the nature of the chromosomal change. Research continues to identify and characterize the genes within 5q13.3 and their roles in human development and health. The precise mechanisms by which these genetic alterations lead to disease are an active area of scientific investigation.