Clinical Genetics and Children

Question 1

DNA is an ______ molecule, ___ strands bind in a(n) _________ form. The sugar backbone is 2-_______ (______ in RNA). The bases are ,,, in DNA and ,,, is RNA.

Answer 1

DNA is an information molecule, two strands bind in an anti-parallel form. The sugar backbone is 2-deoxyribose (ribose in RNA). The bases are A,C,G,T in DNA and A,C,G,U is RNA.

Question 2

How many Genomes are affected in:

Aneuploidy

Answer 2

Entire Chromosome is affected

Question 3

How many Genomes are affected in:

Point mutation

Answer 3

1 base

Question 4

How many Genomes are affected in:

Deletion

Answer 4

10 Megabases

Question 5

How many Genomes are affected in:

Microdeletion

Answer 5

5 Megabases

Question 6

How many Genomes are affected in:

Chromosomal translocation

Answer 6

100 Megabases

Question 7

How many Genomes are affected in:

Deletion of Part of a Gene

Answer 7

1000 bases

Question 8

Which method of detection is used to detect:

Aneuploidy (entire chromasome affected), Chromosomal translocation and Deletion

Answer 8

Standard Karyotype

Question 9

Which method of detection is used to detect:

Deletion and microdeletion

Answer 9

Fluorescence In-Situ Hybridisation

Question 10

Which method of detection is used to detect:

Deletion of Part of Gene

Answer 10

Multiplex Ligation Dependant Amplification

Question 11

Which method of detection is used to detect:
Point Mutation (1 base)

Answer 11

PCR amplification and Sequencing

Question 12

What does Array-CGH mean?

Answer 12

Array Comparitive Genomic Hybridisation

Question 13

What does Array-CGH allow you to do?

Answer 13

Look for sub-microscopic deletion or duplications of chromosome material across the whole human genome.

Question 14

Name the types of mutations which arre illustrated by comparison to sentances below:

Wild Type = “The cat sat on the mat”

1. The cat
2. The caR sat on the mat
3. The cat sPa to nth ema t
4. The cas ato nt hem at
5. The cat on the mat
6. . The cat CAT sat on the mat

Answer 14

1. Stop
2. Missense
3. Insertion
4. deletion (out of frame)
5. deletion (in frame)
6. Triplet expansion

Question 15

What is the definition of Intellectual Disability?

Answer 15

Impairment of general mental abilities that impact adaptive functioning in three domains:
Conceptual
Social
Practical

Department of Education -(A learning difficulty in relation to acquiring new skills or who learn at a different rate to their peers)

Question 16

What is kabuki syndrome?

Answer 16

A pediatric congenital disorder of suspected genetic origin [1][2] with multiple congenital anomalies and intellectual disabilities.