Chromosomal Abnormalities

Question 1

What is Teratology?

Answer 1

study of causes and biological processes leading to abnormal development

Question 2

What is a Congenital anomaly?

Answer 2

abnormality of structure, function or disorder of metabolism that is present at birth and results in a physical or mental disability

Question 3

What is a syndrome?

Answer 3

Multiple congenital abnormalities
Group of abnormalities due a single aetiology
eg single chromosomal/gene problem

Question 4

What is a sequence?

Answer 4

Multiple congenital abnormalities but as a consequence of one abnormality

Question 5

Patau is also known as?

Answer 5

Trisomy 13

Question 6

Edwards is also known as?

Answer 6

Trisomy 18

Question 7

Chromosomal anomaly of Turners

Answer 7

XO

Absent X chromosome

Question 8

Chromosomal anomaly of Klinefelters

Answer 8

XXY

Question 9

Classical features of Pataus T13

Answer 9

‘rocker-bottom’ feet
congenital heart defects
single brain
GI abnormalities

usually die within days of birth

Question 10

Classical features of Edwards T18

Answer 10

congenital heart dfects
small head, jaw
horse shaped kidneys

Question 11

Classical features of FAS

Answer 11

Epicanthal fold (eyes)
flat nasal bridge
thin upper lip

Question 12

Prevalence of birth defects in the UK

Answer 12

2%