Syndromes

Question 1

Edwards syndrome:
Genetics
Features

Answer 1

Trisomy 18
Micrognathia (small jaw)
Low set ears
Rocker bottom feet 
Overlapping of fingers
Cardiac and renal abnormalities

Question 2

Fragile X

Answer 2

Learning difficulties
Macrocephaly
Long face
Large ears
Macro orchidism

Question 3

Noonan syndrome Features

Answer 3

Webbed neck,
Pectus excavatum
Short stature
Pulmonary stenosis

Question 4

Pierre robin syndrome

Answer 4

Micrognathia
Posterior displacement of the tongue
Cleft palate

Question 5

Williams syndrome

Answer 5

Short stature 
Learning difficulties
Friendly extrovert personality
Transient neonatal hyper calcaemia
Supravalvilar aortic stenosis

Question 6

Patau syndrome?

Genetics and features

Answer 6

Trisomy 13
Microcephalic  (small head)
Small eyes And scalp lesions
Cleft lips and palate
Polydactyl 
Cardiac and renal abnormalities

Question 7

How is Down syndrome formally diagnosed?

Answer 7

FISH

Question 8

What congenital problems are there often in Downs?

Answer 8

CHD (atrio ventricular canal defect), duodenal atresia

Question 9

What are the causes of Trisomy 21?

Answer 9

94% meiotic non dysfunction, translocation 5%, mosaicism 1%

Question 10

What are the features of Turners?

Answer 10

Short, widely spaced nipples, webbed neck, delayed puberty

Question 11

How is Turner’s treated?

Answer 11

Growth hormone and oestrogen

Question 12

What is Turner’s similar to?

Answer 12

Noonan, but also has pectus excavatum and is autosomal dominant

Question 13

What is 47XXY?

Answer 13

Klinefelters. Tall, hypogonadism and gynacomastae.

Question 14

What feature is very characteristic of fragile x?

Answer 14

Big ears and large forehead. Learning difficulty.

Question 15

What are the two classic conditions for imprinting and key differentiating features?

Answer 15

Prader Willi (father) - obesity, hypogonadism
Angelman (mother) - seizures and difficulty sleeping
Both have learning difficulties