Q:

Is Marfan syndrome dominant or recessive?

A:

Quick Answer

Marfan syndrome is inherited in an autosomal dominant pattern. It involves the mutation of the FBN1 or fibrillin-1 gene, a so-called dominant gene, and so only one copy of the mutated gene will produce the syndrome in offspring.

Continue Reading

Full Answer

Marfan syndrome affects the connective tissue of the body, rendering them weaker and more flexible than typical. It can result in a number of health problems including impaired vision as the lenses become dislocated or weak heart valves, causing irregular heartbeat, shortness of breath and more.

An individual carrying this dominant gene has a 50 percent chance of passing it along to their offspring. It is estimated that approximately 25 percent of Marfan syndrome cases are caused by a new, spontaneous mutation and not by inheritance of the faulty gene.

Learn more about Conditions & Diseases

Related Questions

  • Q:

    What is trisomy 13 syndrome?

    A:

    Trisomy 13 syndrome is a rare genetic disorder where an individual has three copies of chromosome 13 material instead of two copies, according to MedlinePlus. This extra material is occasionally attached to another chromosome.

    Full Answer >
    Filed Under:
  • Q:

    What causes Down Syndrome?

    A:

    According to Mayo Clinic, Down syndrome occurs in three variations and is caused by additional genetic material from chromosome 21. Cell division errors cause the chromosome abnormalities. The majority of Down syndrome cases, approximately 95 percent, are trisomy 21, which results from three copies of chromosome 21 instead of two copies.

    Full Answer >
    Filed Under:
  • Q:

    What is Down syndrome?

    A:

    Down syndrome is a genetic disorder that causes intellectual and developmental delays, according to the National Down Syndrome Society. It is caused by abnormal cell division that results in additional unnecessary genetic material arising from chromosome 21. Those afflicted generally have a distinct facial appearance, health concerns and intellectual or developmental deficits.

    Full Answer >
    Filed Under:
  • Q:

    What is PANDAS syndrome?

    A:

    PANDAS syndrome is a rare condition that causes neuropsychiatric symptoms in children after they contract a strep infection, MedicineNet explains. The acronym "PANDAS" stands for "Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections." PANDAS develops from an autoimmune response to Streptococcal bacteria, which causes the immune system's antibodies to attack normal cells while trying to fight off the infection.

    Full Answer >
    Filed Under:

Explore