Not example of uni-parental disomy

Discussion in 'AIIMS Nov 2013' started by samuel, Dec 14, 2014.

  1. samuel

    samuel New Member

    Not example of uni-parental disomy
    a) Angelman syndrome
    b) Prader-Willi syndrome
    c) Bloom syndrome
    d) Silver Russell syndrome
    Answer: Bloom syndrome

    Bloom syndrome (congenital telangiectatic
    erythema) is a rare autosomal recessive
    disorder characterized by telangiectases and
    photosensitivity, growth deficiency of prenatal
    onset, variable degrees of immunodeficiency,
    and increased susceptibility to neoplasms of
    many sites and types.
    Uni-parental disomy (UPD) occurs when a
    person receives two copies of a chromosome or
    of part of a chromosome, from one parent and
    no copies from the other parent.
    The most well-known conditions:
    Prader-Willi syndrome (UPD 15)
    Angelman syndrome (UPD 15)
    Beckwith-Wiedemann syndrome
    Russell-Silver syndrome (UPD 7)
    Transient neonatal diabetes (UPD 6)
    UPD of chromosome 14

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