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    Meili Telese has Bardet-Biedl syndrome, a ciliopathy genetic disorder characterized by obesity, vision loss, kidney abnormalities, extra fingers and toes, and impaired speech. The syndrome is more common in populations like Newfoundland, where it affects 1 in 17,000 newborns. While the cause is unknown in 25% of cases, it is typically inherited in an autosomal recessive pattern where both copies of the BBS gene have mutations.

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    Meili Telese has Bardet-Biedl syndrome, a ciliopathy genetic disorder characterized by obesity, vision loss, kidney abnormalities, extra fingers and toes, and impaired speech. The syndrome is more common in populations like Newfoundland, where it affects 1 in 17,000 newborns. While the cause is unknown in 25% of cases, it is typically inherited in an autosomal recessive pattern where both copies of the BBS gene have mutations.

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    15 views1 page

    Wicket

    Uploaded by

    api-267525518
    Meili Telese has Bardet-Biedl syndrome, a ciliopathy genetic disorder characterized by obesity, vision loss, kidney abnormalities, extra fingers and toes, and impaired speech. The syndrome is more common in populations like Newfoundland, where it affects 1 in 17,000 newborns. While the cause is unknown in 25% of cases, it is typically inherited in an autosomal recessive pattern where both copies of the BBS gene have mutations.

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    Ancestry and Disease of Meili Telese

    Description
    The BardetBiedl syndrome (BBS) is a ciliopathic human genetic disorder
    that produces many effects and affects many body systems

    Symptoms

    Statistics
    Newborns are 1 in 160,000 more

    Impaired Speech

    common on the island by the East

    Kidney abnormality

    Coast ( Newfoundland)

    Obesity

    Newfoundland; 1 in 17,000

    Vision loss

    newborns

    Extra fingers and toes

    North America and Europe 1 in


    140,000

    Ancestry

    Name : Meili Telese


    CDX Chinese Dai in Xishuangbanna, China
    CHB Han Chinese in Bejing, China
    CHS Southern Han Chinese, China
    KHV Kinh in Ho Chi Minh City, Vietnam
    JPT Japanese in Tokyo, Japan

    Causes

    In 25% of the cases the cause is


    unknown.

    Bardet-Biedel Syndrome: Typically


    inherited in an autosomal
    recessive
    pattern, which means both copies
    of a BBS gene in each cell have
    mutations.

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