Clinical cytogenics

Question 1

Essential functional elements of chromosomes

Answer 1

Replication origins: many per chromosomes

Centromeres and telomeres

Question 2

Autosomal aneuploidy

Answer 2

Autosomal monosomies (missing one chromotid) are generally lethal

Most live birth aneuploidy are trisomies, 25% of first trimester miscarriages chromosomal abnormalities

Question 3

Down Syndrome

Answer 3

trisomy 21. severe mental flat facie epicanthic folds, single palmar crease, AV defect, atresia
incidence rate 1/700 Drinking age 21

Question 4

Edwards syndrome

Answer 4

Election age 18

trisomie 18, prominent occiput, intellectual, non disjuction death by 1
1;8000

Question 5

Patau syndrome

Answer 5

Puberty at 13

cleft lip, long term survival rate low

Question 6

klinefelter syndrome

Answer 6

XXY,

1/700 births essentially a more female woman

Question 7

Jacobs syndrome

Answer 7

XYY

more manly man, extra dumb boy taller

Question 8

Turner syndrome

Answer 8

short girl only one X

Question 9

triplle X

Answer 9

phenotype is mild exagerated face