Handbook of Abiogenetic Counseling Angelman Syndrome-2

 18 June 03:20   Angelman Syndrome

    **65-75% 3-5Mb abatement <1%

    **<1% asymmetric about-face as top as 50%

    *small interstitial deletion

    **3-7% benevolent uniparental disomy <1%

    **<1% uniparental disomy with abutting 100% Robertsonian translocation

    **1-3% imprinting birthmark as top as 50% (if abatement in imprinting centermost mother has deletion)

    **1-3% imprinting birthmark acceptable <1% after deletion

    **11% UBE3A alteration as top as 50% if mother has deletion

    **10-15% additional unidentifiable couldcause alotof cases not familial (but could be as top as 50%)

    *Who is complex in affliction of patient?

    *What is the active situation?

    *How will accepting a analysis change affliction and management?

    *How will accepting a analysis affect you?

    *Are there apropos about ceremony risks?

    *Geneclinics: Angelman syndrome

    *Smiths Apparent Patterns of Animal Malformations

    *Clinical Analysis Lecture

    The advice in this outline was endure adapted in 2002.