Trisomy conditions

Question 1

What are the 3 main trisomy disorders?

Answer 1

Down’s syndrome
Edward’s syndrome
Patau’s syndrome

Question 2

What trisomy causes Down’s syndrome?

Answer 2

Trisomy 21

Question 3

What trisomy causes Edward’s syndrome?

Answer 3

Trisomy 18

Question 4

What trisomy causes Patau’s syndrome?

Answer 4

Trisomy 13

Question 5

How can someone with Patau’s syndrome present?

Answer 5

Cleft lip and palate
Small eyes
Microcephaly
Polydactyly
Congenital heart disease

Question 6

What is polydactyly?

Answer 6

Condition in which a person is born with extra fingers or toes

Question 7

What is Microcephaly?

Answer 7

Child is born with a smaller than average head

Question 8

What is the prognosis of someone born with Patau’s syndrome?

Answer 8

It is rare for children with Patau’s syndrome to survive more than a few weeks

Question 9

What are the presenting featrues of someone with Edward’s syndrome?

Answer 9

Low-set ears
Micrognathia
Microcephaly
Overlapping 4th and 5th fingers
Rocked bottomed feet
Congenital heart disease

Question 10

What is micrognathia?

Answer 10

A child with a very small lower jaw

Question 11

What is the progonosis of someone presenting with Edward’s syndrome?

Answer 11

It is rare for children to survive more than a few months of age.