Genetics

Question 1

3 genetic abnormality types picked up by karyotyping

Answer 1

aneuploidy
chromosomal translocation
deletion

Question 2

2 genetic abnormlaity types that is picked up by FISH

Answer 2

deletions

microdeletions

Question 3

PCR amplification and sequencing can detect these gene mutations

Answer 3

point mutations

Question 4

microdeletions, gene part deletion and point mutations can be picked up by which method

Answer 4

multiplex ligation dependent amplification

Question 5

aCGH stands for __

can detect __ to ___ genetic abnormalities

Answer 5

array Comparative Genomic Hybridisation

sneuploidy to microdeletions

Question 6

aCGH can only detect ___ not ___

Answer 6

imbalance of genome amount
eg. duplications and deletions
not translocatiosn

Question 7

Williams Syndrome genetics =

features =

Answer 7

elastin gene deletion on chromosome 7

very friendly, elfin features

Question 8

Rubenstein-Taybi Syndrome features =

Answer 8

high arched eyebrows
tip of nose hangs down
thick thumb and first toe

Question 9

Kabuki makeup syndrome features =
genetics =
mode of inheritance =

Answer 9

cleft/high palate, large ears, drool, short 2nd phalanges of 5th finger
MLL2 gene/KMT2D - usually premature stop on chromosome 12
auto dom or de novo

Question 10

1st line investigations for a suspected chromosomal syndrome

Answer 10

CK
TFTs
U+E
bone group
LFT
FBC
chromosome microarray
FRAX

Question 11

2nd line investigations for suspected chromosomal syndrome

Answer 11

neuroimage
lead levels
biotinidase
uric acid
ammonia/lactate
amino acids
oligo and mucopolysaccharides
EEG/CSF/skeletal survey