Chromosomal Abnormalities

Question 1

Patau syndrome (trisomy 13)

Answer 1

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

Question 2

Edward’s syndrome (trisomy 18)

Answer 2

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

Question 3

Fragile X

Answer 3

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

Question 4

Noonan syndrome

Answer 4

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Question 5

Pierre-Robin syndrome*

Answer 5

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

*this condition has many similarities with Treacher-Collins syndrome. One of the key differences is that Treacher-Collins syndrome is autosomal dominant so there is usually a family history of similar problems

Question 6

Prader-Willi syndrome

Answer 6

Hypotonia
Hypogonadism
Obesity

Question 7

William’s syndrome

Answer 7

Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis

Question 8

Cri du chat syndrome (chromosome 5p deletion syndrome)

Answer 8

Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism

Question 9

Supravalvular aortic stenosis

Answer 9

William’s syndrome

Question 10

Transient neonatal hypercalcaemia

Answer 10

William’s syndrome

Question 11

Posterior displacement of the tongue and cleft palate

Answer 11

Pierre-Robin syndrome

Question 12

Pectus excavatum

Answer 12

Noonan syndrome

Question 13

webbed neck

Answer 13

Noonan syndrome

Question 14

Pulmonary stenosis

Answer 14

Noonan syndrome

Question 15

Rocker bottom feet

Answer 15

Edward’s syndrome (trisomy 18)

Question 16

Overlapping of fingers

Answer 16

Edward’s syndrome (trisomy 18)

Question 17

Low-set ears

Answer 17

Edward’s syndrome (trisomy 18)

Question 18

Microcephalic, small eyes

Answer 18

Patau syndrome (trisomy 13)

Question 19

Scalp lesions

Answer 19

Patau syndrome (trisomy 13)

Question 20

Polydactyly

Answer 20

Patau syndrome (trisomy 13)

Question 21

Micrognathia

Answer 21

Edward’s syndrome (trisomy 18)
Pierre-Robin syndrome
Cri du chat syndrome

Question 22

Macrocephaly

Answer 22

Fragile X

Question 23

Macro-orchidism

Answer 23

Fragile X