Genetics in children

Question 1

What tests are genome wide testing?

Answer 1

Array genome hybridisation
Exome enriched next generation sequencing
Whole genome sequencing

Question 2

What is the human life cycle?

Answer 2

Infertility
Antenatal
Neonatal
Paediatric
Adult onset

Question 3

How big is the human genome?

Answer 3

3,000000000 base pairs
30,000 genes
3,000000 polymorphisms

Question 4

How is an aneuploidy tested?

Answer 4

Entire chromosome affected so it is a standard karyotype

Question 5

How is a chromosomal translocation tested (100 megabases)

Answer 5

Standard karyotype

Question 6

How is a chromosomal deletion tested (10 megabases)

Answer 6

Fluorescence in situ hybridisation and a karyotype

Question 7

How is a microdeletion tested (5 megabases)

Answer 7

Fluorescence in situ hybridisation

Question 8

How is a deletion of part of a gene tested (1000 bases)

Answer 8

Multiplex: ligation dependant amplification

Question 9

How is a point mutation tested (1 base)

Answer 9

PCR amplification and sequencing

Question 10

What is the purpose of a chromosomoe microarray genoic hybridisation?

Answer 10

Allows you to look for sub-microscopic deletions of duplications of chromosome material across the whoel genome

Question 11

What is the patients DNA compared with?

Answer 11

Control DNA

Question 12

What will half as much DNA in comparison with the control DNA suggest?

Answer 12

Deletion

Question 13

What will 50% more DNA in comparison with the control DNA suggest?

Answer 13

Duplication

Question 14

What type of chromosome rearrangements with chromosome microarray detect?

Answer 14

Unbalanced chromosome rearrangements

Question 15

What is DiGeorge syndrome?

Answer 15

Deletion of a portion of gene from the q arm of chromosome 22

Question 16

How is DiGeorge syndrome inherited?

Answer 16

Autosomal dominant

Question 17

What genetic test is done for DiGeorge diagnosis?

Answer 17

Array comparative genomic hybridisation

Question 18

What is an intronic variant?

Answer 18

Low likelihood of effect

Question 19

What is an exonic variant?

Answer 19

Potential to change amino acid sequence, create a stop, cause a frameshift or have no effect at all

Question 20

What can cause a splicing error?

Answer 20

Change to splice sequence 1 or 2 bases into intron

Question 21

How do you know that a genetic change causes disease?

Answer 21

Gene matches phenoctype
Has an effect on gene function 
Not listed as a polymorphism
Evolutionary conserved bit of gene
De-novo in child 
Present in other affected family members

Question 22

What are the different types of mutations in DNA sequences?

Answer 22

Wild type
Stop
Missense
Insertion
Deletion (out of frame)
Deletion (in frame) 
Triplet expansion

Question 23

How are phenotypes identified?

Answer 23

Dysmorphology database
Pubmed
Online mendelian inheritance in man
Other geneticists

Question 24

What is the phenotype of kabuki makeup syndrome?

Answer 24

Cleft palate
Unusual eyes and eyebrows
Tendency to drool
Short 2nd and 5th finger

Question 25

What is the genotype in kabuki makeup syndrome?

Answer 25

Mutation in MLL2 which is a protein that makes histones

Produces a stop codon creates a non-functional protein

Question 26

What is the best test for de-novo mutations?

Answer 26

Next generation sequencing with clinical assessment

Question 27

How is Kabuki syndrome inherited?

Answer 27

Autosomal dominant

Question 28

How can spinomuscular atrophy be treated?

Answer 28

Treatments that improve gene splicing

Question 29

How can tuberous sclerosis be treated?

Answer 29

Rapamycin targets mTor signalling