QuestionSBA
QuestionChoice
This occurs in 1 in 1000 male births. In this syndrome, the male is born with an extra X chromosome. This predisposes to infertility, poor development of secondary sexual characteristics and being very tall.
10005060
e
Klinefelter's syndrome
QuestionChoice
This is trisomy 13.
This occurs in 1 in 5000 births. It causes multiple malformations: affecting midline structures. There is incomplete lobation of the brain, cleft lip and congenital heart disease.
10005058
c
Patau syndrome
QuestionChoice
This is trisomy 21.
In this syndrome, the baby is born with an extra copy of chromosome 21. This causes intellectual disability and abnormalities such as upslanted palpebral fissures and a flat nasal bridge.
10005057
b
Down's syndrome
QuestionChoice
This occurs in 1 in 3000 births. This condition causes multiple malformations, especially in the heart and kidneys and is not compatible with life.

NB Trisomy refers to an extra copy of a chromosome within the nucleus. This often leads to developmental disorders.
10005056
a
Edward's syndrome
QuestionChoice
This is a condition where a female is born with one of her X chromosomes missing. This characteristically causes short stature, failure of the ovaries to develop and heart defects.
10005059
d
Turner's syndrome
Concept
Chapter
2693
3785
Trisomy Disorders
Topic
156
Medical Genetics
13558
Which of the following is the syndrome associated with trisomy 18?
a