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Flashcards in Paediatrics Deck (11):
1

Which of the following indicates Turner Syndrome?
A) 46 XY
B) 47 XXY
C) 45 XX
D) 45 X
E) 45 Y

D) 45 X

2

Which of the following indicates Klinefelter Syndrome?
A) 46 XY
B) 47 XXY
C) 45 XX
D) 45 X
E) 45 Y

B) 47 XXY

3

Give 6 changes or anomalies which might lead you to suspect T21 in an infant.

Craniofacial changes: round face, flat nasal bridge, upslanted palpebral fissures, epicanthic folds, brushfield spots in the iris, small mouth, protruding tongue, small ears, flat occiput and third fontanelle.

Medical anomalies: hypotonia, congenital heart disease, duodenal atresia, Hirschsprungs Disease.

Other changes: single palmar crease, I curved 5th finger, wide sandal gap.

4

What is the cardinal feature of the chromosomal abnormality 45, X?

Short stature (Turner Syndrome).

5

What is the most common presenting feature of the chromosomal abnormality 47, XXY?

Infertility (Kleinfelter Syndrome)

6

Which of the following conditions is inherited in an autosomal dominant manner?
A) Cystic Fibrosis
B) Down Syndrome
C) Achondroplasia
D) Sickle Cell disease
E) Friedrichs Ataxia

C) Achondroplasia

B) T21
A, D and E all autosomal recessive

7

Which of the following conditions is inherited in an autosomal recessive manner?
A) Congenital Adrenal Hyperplasia
B) Ehlers-Danos Syndrome
C) Huntington’s Disease
D) Marfan Syndrome
E) G6PD deficiency

A) Congenital Adrenal Hyperplasia

B, C and D are autosomal dominant inheritance.

E) X linked recessive inheritance

8

Which of the following conditions are inherited in an X-linked recessive manner?
A) Myotonic Dystrophy
B) Haemophilia A
C) Polyposis Coli
D) Tay-Sachs Disease
E) Phenylketonuria

B) Haemophilia A

A and C are autosomal dominant
D and E are autosomal recessive

9

A woman is a known carrier of the Duchenne muscular dystrophy (DMD) genetic mutation. Her and her partner are now expecting their first child.

Ai) what mode of inheritance is present in this condition and illustrate this with a diagram.
Aii) If they have a son what is the likelihood he will be affected by or be a carrier of the condition?
Aiii) If they have a daughter what is the likelihood she will be affected by or be a carrier of the condition?

B) Which muscles are commonly the first to be affected in children with DMD?

C) In toddlers with DMD, which muscles may undergo pseudo-hypertrophy?

D) What is the life expectancy of individuals affected by this condition?

Ai) X-linked recessive inheritance
Aii) 50% chance of being affected, 0% chance of being a carrier
Aiii) 0% chance of being affected, 50% chance of being a carrier

B) muscles of the hips, thighs and shoulders

C) the calf muscles

D) in males with DMD, 20 years is the normal life expectancy.

10

Which clinical syndrome features failure to thrive in infancy but then obesity in later childhood and developmental delay?

Prader-Willi Syndrome

11

Give some of the main aims of genetic counselling.

To help a patient understand their situation.

To guide their decisions regarding the managment of the disease, risks of it occurring and whether other family members may want to be tested

It adjust their situation due to the risk of being affected by the condition