Genetics

Question 1

What are the common features of Down syndrome?

Answer 1

1 - Learning disabilities

2 - Congenital heart disease

3 - Hypothyroidism

4 - Early onset Alzheimer disease

Question 2

What is one of the distinguishing features of Marfans syndrome?

Answer 2

Long fingers

Question 3

What are the features of a Pierre-Robin sequence?

Answer 3

Small chin and cleft palate

Question 4

What are the features of fetal akinesia sequence?

Answer 4

Reduced fetal movement

Reduced breathing

Clefting

Lung hypoplasia

Question 5

What are the components of the VATER association?

Answer 5

Vertebral

Anorectal atresia

Traceho-

Eosophageal fistula

Radial anomalies

Question 6

Which syndrome can also be known as 45,X,0 syndrome and why?

Answer 6

Turner syndrome

Females are missing part of or an entire X chromosome

Question 7

What are some of the features of Turner syndrome?

Answer 7

Lymphoedema (puffy feet and nuchal translucency)

Short stature

Coarctation of Aorta

Hypothyroidism

Primary amenorrhoea & infertility

Question 8

What are some of the features of 22q11 deletion syndrome?

Answer 8

1 - Cleft palate

2 - Abnormal facies

3 - Thymic hypoplasia

4 - Cardiac problems

5 - Hypocalcaemia

CATCH 22

Question 9

Which gene is affected in Glut1 deficiency syndrome?

Answer 9

SLC2A1

Question 10

How is Glut1 deficiency syndrome treated?

Answer 10

Ketogenic diet