paeds genetics 2

Question 1

microarray genomic hybridisation (aCGH) only detecs __ chromosome rearrangements

Answer 1

unbalanced

Question 2

in aCGH, half as much implies __, and 50% indicates __

Answer 2

deletion

duplication

Question 3

in a gene, the intronic (intron) variant has __ likelihood of effect, in splice sequences usually 1 or 2 bases into __ causes splicing error, in the exonic variant there is potential to change __ __ sequence, create a __, cause ___ or have __ effect

Answer 3

low

introns

amino acid
stop
frameshift
no

Question 4

a mutation in MLL2, with a cleft palate, shortened 2nd nd 5th phalanges, unusual eyes and eyebrows

what disease am i

Answer 4

kubaki make up syndrome