Thursday, February 4, 2010

Lowe Syndrome More Condition_symptoms Lowe Syndrome Is A Rare Genetic Condition That Causes Physical And Mental Handicaps And Medical Problems.?

Lowe syndrome is a rare genetic condition that causes physical and mental handicaps and medical problems.? - lowe syndrome more condition_symptoms

Lowe's syndrome children are born with cataracts in both eyes, which are generally removed within a few months. Glaucoma is present in approximately 50% of children with Lowe syndrome. although usually not at birth. Slowly progressive renal insufficiency, occurs when the first cause of death, death usually in the second or third decade of life. Approximately 1 / 3 of patients have severe mental retardation, but most have an IQ in the moderate range of 40-54. It is an inherited condition that only men who have concerns caused by a defective gene in a gene called OCRL1. Because of this defective gene from a key enzyme 5-PIP2-phosphhatase not take place. This enzyme is localized in the Golgi, and appears to play a role in cell-commerce play. A deficiency of this enzyme can affect cellular protein classification. A normal man and normal woman, had a son who died of Lowe syndrome. What is the probability that their next child will have Down's syndrome?

1 comment:

  1. ... http://ghr.nlm.nih.gov/condition=lowesyn

    Lowe syndrome is caused by a sex linked (X chromosome) allele.
    Since the mother is "normal" and the father is normal, and gave birth to a child with the disease, the surrogate mother.
    This means that every child
    Normal women
    Female carrier
    Healthy male
    Male Sufferer

    A 1 in 4 chance.

    Hope that helped.

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