Down Syndrome - Trisomy 21

Question 1

classic signs of down syndrome - trisomy 21

Answer 1

decreased tone - hypotonia - floppy baby
upslanting papebral fissures - eyes
epicanthal folds
redundant nuchal skin
clindoactyly of fifth fingers - pinky curves in
brachydactyly - sandal toe, wide separation
exremeties show single transverse palmar crease
brushfield spots (spots on eyes)
combination of signs

Question 2

does increased age increase risk for down syndrome/trisomy 21

Answer 2

yes, over age 40 women

men over 50

Question 3

with downs how many chromosomes do you have

Answer 3

47,
can have monosomy or trisomy (extra genetic material)
during meiosis extra genetic material can go into cells

Question 4

long arm of chromosome ____ break of and travel to other cells

Answer 4

14, 15 & 21 - known as translocation

Question 5

is there a high percentage rate of having another child with downs if you already had 1

Answer 5

yes, should have genetic counseling