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7 Cards in this Set
- Front
- Back
what does 46, XY, t(11,12)(q23;q11) mean |
translocation between 11 and 12 , break point on chromosome 11 is q23 and that on chromosome 12 is q11 |
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how do you show classic down syndrome
how do you show rob |
47 XX + 21 for example
46, XY , rob (14,21) |
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how else can patau syndrome happen besides
|
46 XX +13, rob or der(13;14)(q10, q10)
most common robersonian translocation |
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how an individual have partial trisomy 13 |
ring 13 chromosome, which is unstable |
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what is most common non-robertsonian translocation |
t(11;22)(q23;q11) |
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what is 17p11.2 deletion syndrome |
smith magenis |
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what happens in balletic DNMT3b cause
what is the enzyme
what happens |
ICF sydrome with hypomethylation pericentromeric regions of 1,9,16
DNA methyltransferase
massive amplification of arms of these chromosomes |