Genetic Problems

Question 1

What is Down’s syndrome?

Answer 1

Trisomy 21

Question 2

What are the features of Down’s syndrome?

Answer 2

Hypotonia
Brachycephaly
Flattened face
Prominent epicanthic folds
Single palmar crease
Brushfield spots

Question 3

What is brachycephaly?

Answer 3

Flattened area at the back of the skull

Question 4

What are the complications of Down’s syndrome?

Answer 4

Learning difficulties
Deafness
Recurrent otitis media
Visual problems
Cardiac defects
Leukameia 
Dementia

Question 5

What cardiac defects are associated with Down’s syndrome?

Answer 5

ASD
VSD
PDA
Tetralogy of Fallot

Question 6

How is Down’s syndrome screened for?

Answer 6

Combined test
Triple test
Amniocentesis
Chorionic villus sampling

Question 7

When is the combined test for Down’s syndrome done?

Answer 7

11-14 weeks gestation

Question 8

What is the combined test for Down’s syndrome?

Answer 8

Ultrasound - measures nuchal translucency

Maternal blood tests

Question 9

When is the triple test for Down’s syndrome done?

Answer 9

14-20 weeks gestation

Question 10

What is the triple test for Down’s syndrome?

Answer 10

B-HCG
AFP
Serum oestriol

Question 11

What is Turner’s syndrome?

Answer 11

Single X chromosome

Question 12

What are the features of Turner’s syndrome?

Answer 12

Short stature
Webbed neck
Widely spaced nipples
Cubitus valgus
Infertility

Question 13

What is cubitus valgus?

Answer 13

Forearm angled away from body at a greater angle than expected when the arm is straight

Question 14

What are complications of Turner’s syndrome?

Answer 14

Recurrent otitis media
Coarctation of the aorta 
Recurrent UTI
Hypothyroidism 
Hypertension

Question 15

What is Patau syndrome?

Answer 15

Trisomy 13

Question 16

What are features of Patau syndrome?

Answer 16

Microcephaly
Small eyes
Cleft lip/palate
Polydactyly
Scalp lesion

Question 17

What is Edward’s syndrome?

Answer 17

Trisomy 18

Question 18

What are features of Edward’s syndrome?

Answer 18

Micrognathia
Low set ears
Rocker bottom feet
Overlapping fingers

Question 19

What is micrognathia?

Answer 19

Small jaw

Question 20

What is noonan syndrome?

Answer 20

Autosomal dominant genetic condition

Question 21

What are features of Noonan syndrome?

Answer 21

Short stature
Webbed neck
Hypertelorism 
Prominent nasolabial folds
Pectus excavatum

Question 22

What is hypertelorism?

Answer 22

Wide space between eyes

Question 23

What are complications of Noonan syndrome?

Answer 23

Congenital heart disease
Cryptorchidism
Learning disability
Increased leukaemia risk

Question 24

What congential heart disease is associated with Noonan syndrome?

Answer 24

Pulmonary stenosis

Question 25

What is Klinefelter syndrome?

Answer 25

XXY

Question 26

What are features of Klinefelter syndrome?

Answer 26

``` Tall Wide hips Gynaecomastia Small testicles Infertility ```

Question 27

What is Prader-Willi syndrome?

Answer 27

Partial deletion of chromosome 15

Question 28

What are features of Prader-Willi syndrome?

Answer 28

Constant hunger -> obesity Hypotonia Hypogonadism

Question 29

How is Prader-Willi syndrome managed?

Answer 29

Dietician | Growth hormone

Question 30

What is William syndrome?

Answer 30

Partial chromosome 7 deletion

Question 31

What are feaures of William syndrome?

Answer 31

Starburst eyes Wide mouth Very sociable

Question 32

What are complications of William syndrome?

Answer 32

Supravalvular aortic stenosis Hypercalcaemia Hypertension

Question 33

What is fragile X syndrome?

Answer 33

Mutation of FMR1 gene on X chromosome

Question 34

What is the inheritance pattern of fragile X syndrome?

Answer 34

X-linked

Question 35

What are features of fragile X syndrome?

Answer 35

``` Learning difficulties Macrocephaly Long face Large ears Macro-orchidism ```