Paediatric genetics

Question 1

Diseases diagnosed in NICU

Answer 1

Congenital anomalies

Eyes and ears

Question 2

Diseases diagnosed in early childhood

Answer 2

Developmental

Question 3

Diseases diagnosed at school age

Answer 3

Diseases with a family history
- PKD
- NF
- long QT

Question 4

Gene mutations that cause extra fingers

Answer 4

HOX gene

Question 5

Potter’s

Answer 5

Kidneys and lungs

Question 6

Coverage

Answer 6

Repeating a sequence 30x

Question 7

Assosciations

Answer 7

Not well understood

Question 8

DDD project

Answer 8

Children with developmental disorders

Question 9

What percentage of children in the DDD project had de novo pathogenic mutations?

Answer 9

76%

Question 10

Unnecessary interventions could have been avoided in ____ of children with pathogenic mutations.

Answer 10

10%

Question 12

Why is the diagnostic yield in autism so poor?

Answer 12

• likely due to polygenic and multifactorial factors
• gene interactions likely more important than individual genes

Question 13

Low set ears

Answer 13

Trisomy 13 and 18

Question 14

Polydactyl

Answer 14

Trisomy 13

Question 15

Symptoms of mild velocardiofacial syndrome

Answer 15

Nasal speech and slightly myopathic faces

Question 16

Which de novo dominant condition is more likely if the father is older?

Answer 16

Achondroplasia

Question 17

RNU4-2 mutation

Answer 17

Developmental delay
Vision problems
Difficulty ambulating

Question 18

RNU4-2

Answer 18

Non coding RNA involved in gene regulation

Question 19

Describe RNU4-2 mutation inheritance

Answer 19

Usually de novo dominant

Always on the maternal allele

Question 20

Most common RNU4-2 mutation

Answer 20

T insertion