T2 Chromosome disorders Flashcards
1
Q
how does dosage effect produce abnormal phenotype?
A
loss>gain of chromosomal material
2
Q
what is genomic imprinting?
A
effect due to parental origin of a chromosome/segment
3
Q
what is position effect?
A
gene in a new chromosomal environment functions inappropriately
4
Q
where does Robersonian translocation take place?
A
acrocentric
5
Q
what is the difference between pericentric & paracentric inversions?
A
- peri: 2 breaks in two arms
- para: two breaks in one arm
6
Q
what is an interstitial deletion?
A
2 breaks; segments in between lost
7
Q
what is a terminal deletion?
A
1 break; segment is lost
