chromosome disorders

Question 1

aberrations in chromosomes result from what?

Answer 1

loss, gain, or abnormal arrangement of one or more chromosomes.

Question 2

what do aberrations lead to?

Answer 2

excess or deficient genetic material and thus protein

Question 3

what is ploidy?

Answer 3

of complete homologous sets of chromosomes in a genome

Question 4

aneuploidy?

Answer 4

different # of chromosomes; a loss or gain of a chromosome

Question 5

what does autosomal aneuploidy cause?

Answer 5

birth defects and mental retardation

Question 6

what does sex chromosome aneuploidy cause?

Answer 6

sexual infantilism and mild retardation

Question 7

two examples of sex chromosome aneuploidy?

Answer 7

turner’s (x) or klinefelter’s (XXY)

Question 8

trisomy means what?

Answer 8

3 of a chromosome

Question 9

monosomy means what?

Answer 9

1 of a chromosome

Question 10

extra chromosome 21 causes what? (trisomy 21)

Answer 10

down syndrome

Question 11

what is a deletion?

Answer 11

breakage or loss of a portion of a chromosome leads to loss of specific genes in that deleted region

Question 12

cri-du-chat is caused by what?

Answer 12

deleted region on short arm on chromosome 5

Question 13

what is cleft palate caused by?

Answer 13

22q11.2 deletion

Question 14

what causes renal oncocytoma?

Answer 14

deletion of terminal end of chromosome 1p and monosomy of chromosome 14

Question 15

what’s a translocation?

Answer 15

breakage of 2 chromosomes with transfer of one broken segment to another

Question 16

what causes chronic myelogenous leukemia?

Answer 16

translocation - philadelphia chromosome translocation bw chromosomes 9 and 22 t(9;22)

Question 17

what is CML? (chronic myelogenous leukemia) accounts for how much adult leukemia?

Answer 17

bone marrow disease characterized by increased proliferation of wbc line, 20 % responsible for adult leukemias

Question 18

what is isochrome formation? what results from this?

Answer 18

breaking of chromosome at centromere with one arm being duplicated; chromosome with 2 p’s or q’s

Question 19

what is angelman syndrome caused by?

Answer 19

maternal isochromosome 15

Question 20

breakage of chromosomes can lead to what other aberrations?

Answer 20

ring chromosome, dicentric chromosome, or paracentric and pericentric inversions