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What chromosomal mutation results in alagille syndrome?
translocation
Which chromosomal mutation results in Alagille syndrome?
Alagille syndrome is typically caused by a deletion or mutation in the JAG1 gene located on chromosome 20. This gene provides instructions for making a protein involved in the development of various organs and tissues, including the liver, heart, and eyes.
What could be described as a chromosomal mutation?
Chromosomal mutation can have lasting impacts on the person who this happens to. A version of a chromosomal mutation is the mutation that leads to Down's Syndrome.
Is Marfan syndrome a chromosomal mutation?
Yes
Is klinefelter syndrome chomosomal mutation?
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.
What are four of chromosomal mutation?
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).
What causes Alagille syndrome?
Alagille syndrome is an inherited disorder; in which a person may have fewer than normal the number of small bile ducts inside the liver. Most people with Alagille have a defect in the JAG1(Jagged 1/drosophilia) gene that leds to Alagille syndrome. A child has a fifty percent chance of contraction Alagille syndrome from an affected parent.
What are four types of chromosomal 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).
Is down's syndrome caused by a gene or chromosomal mutation?
Neither. It is an extra #21 chromosome.
What are examples of diseases caused by chromosomal mutation?
Down's Syndrome Kleinfelter's Syndrome
What type of chromosomal mutation is wolf hirschhorn syndrome?
Wolf-Hirschhorn syndrome is primarily caused by a deletion of a portion of chromosome 4, specifically at the 4p16.3 region. This chromosomal mutation is classified as a deletion mutation, where a segment of the chromosome is missing, leading to the loss of genetic material. The syndrome is characterized by developmental delays, distinctive facial features, and other congenital anomalies.
Is down syndrome and pku caused by chromosomal abnormalities?
Down syndrome is caused by an additional chromosome while PKU is due to a mutation or defect in a gene.
