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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

how do you show classic down syndrome



how do you show rob

47 XX + 21 for example



46, XY , rob (14,21)

how else can patau syndrome happen besides



46 XX +13, rob or der(13;14)(q10, q10)



most common robersonian translocation

how an individual have partial trisomy 13

ring 13 chromosome, which is unstable

what is most common non-robertsonian translocation

t(11;22)(q23;q11)

what is 17p11.2 deletion syndrome

smith magenis

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