Clinical Cytogenetics

Question 1

Clinical cytogenetics: the study of ___, including their structure, function, and variation and their role in human disease and heredity

Answer 1

the study of chromosomes, including their structure, function, and variation and their role in human disease and heredity

Question 2

Aneuploidy

Answer 2

addition or loss of one or more ENTIRE chromosomes

Trisomy: one extra chromosome (trisomy 21)

Monosomy: loss of one chromosome (45, x/turner S

Occurs usually because of nondisjunction during meiosis

Question 3

trisomy vs monosomy

Answer 3

both are aneuploidies, but trisomy is addition on an extra chromosome an monosomy is the deletion of a chromosom

Question 4

aneuploidy usually occurs because of ___ during ___

Answer 4

nondisjunction during meiosis

Question 5

polyploidy

Answer 5

an extra entire SET of chromosomes, not just one extra of a single chromosome

Question 6

Deletion or duplication results in an abnormal phenotype with because of loss or gain of __ __ genes (__ effect), or a deletion can unmask a _ mutation on the other allele.

Answer 6

Deletion or duplication results in an abnormal phenotype with because of loss or gain of dosage sensitive genes (imprinting effect), or a deletion can unmask a recessive mutation on the other allele.

Question 7

prader willi and angelman are both due to ____, esseentially making them a ___ disorder

Answer 7

due to microdeletion syndromes, making them imprinting disorders because there is a loss of dosage sensitive genes

Question 8

single palmar crease is a finding of:

Answer 8

down syndrome

Question 9

turner syndrome is an example of a ___

Answer 9

aneuploidy (loss ofa chromosome XO)

Question 10

klinefeleter is an example of an ___

Answer 10

aneuploidu (XXY- addition of a chromosome)