Deletion, duplication, inversion, translocation.
Deletion: loss of a chromosomal segment. Duplication: repetition of a chromosomal segment. Inversion: reversal of a chromosomal segment. Translocation: movement of a chromosomal segment to a new location on a different chromosome.
mutations
Proteus syndrome is not caused by a specific gene on a particular chromosome; instead, it is thought to be due to a somatic mutation (mutation occurring after fertilization) in the AKT1 gene. This mutation leads to overgrowth of certain tissues in the body, resulting in the characteristic features of the syndrome.
Aneuploidy mutation causes a change in the number of chromosomes. Aneuploidy occurs during cell division when the chromosomes do not separate properly resulting in a change in the number of chromosomes.
Hurler syndrome is caused by a mutation in the gene located on chromosome 4 that provides instructions for producing an enzyme called alpha-L-iduronidase. This mutation leads to the accumulation of glycosaminoglycans in the body, resulting in the various symptoms associated with the syndrome.
Translocations
translocation
Deletion: loss of a chromosomal segment. Duplication: repetition of a chromosomal segment. Inversion: reversal of a chromosomal segment. Translocation: movement of a chromosomal segment to a new location on a different chromosome.
An Inversion mutation is a mutation that causes a reversal in the order of a segment of a chromosome within the chromosome, or a gene.
mutations
Four types of chromosomal mutations are Down syndrome (which is a mutation in which there are three copies of chromosome 21), Kinefelter Syndrome (which is a mutation in which a male has an extra X-chromosome), Turner Syndrome (which is a mutation in which a female is missing an X-chromosome), and Patau Syndrome (which is a mutation in which there are three copies of chromosome 13).
A mutation is the term for any permanent change in a gene or chromosome. Mutations can be caused by various factors, such as errors during DNA replication or exposure to certain environmental factors like radiation or chemicals.
Proteus syndrome is not caused by a specific gene on a particular chromosome; instead, it is thought to be due to a somatic mutation (mutation occurring after fertilization) in the AKT1 gene. This mutation leads to overgrowth of certain tissues in the body, resulting in the characteristic features of the syndrome.
Klinefelters syndrome occurs in a male and it is when they carry and extra X chromosome having a total of 47chromosomes rather than the usual 46. Thus resulting in a chromosomal mutation.
Aneuploidy mutation causes a change in the number of chromosomes. Aneuploidy occurs during cell division when the chromosomes do not separate properly resulting in a change in the number of chromosomes.
Hurler syndrome is caused by a mutation in the gene located on chromosome 4 that provides instructions for producing an enzyme called alpha-L-iduronidase. This mutation leads to the accumulation of glycosaminoglycans in the body, resulting in the various symptoms associated with the syndrome.
Mutation