Uniparental disomy

Question 1

A child can, rarely, inherit both copies of a chromosome from one parent. This is termed ____.

Answer 1

uniparental disomy (UPD)

Question 2

Trisomy is avoided by the loss of the other parent ’ s homologue of that chromosome from the fetus at an early stage by the process known as _____.

Answer 2

trisomic rescue

Question 2

When both inherited copies of the chromosome are not only from the same parent, but have actually originated in the same grandparent (i.e. two copies of the same homologue), then the term used is ____

Answer 2

uniparental isodisomy

Question 3

Alternatively, when the two copies of the chromosome are inherited from the same parent but have originated in different grandparents, the appropriate term is ____.

Answer 3

uniparental heterodisomy