Down Syndrome Flashcards
define syndrome
a recognisable pattern of signs and symptoms that indicate a particular disease
what does aneuploid mean
abnormal number of chromosomes in a cell, e.g. 45 or 47
trisomy 21 is also known as
down syndrome
trisomy 18 is also known as
edwards syndrome
trisomy 13 is also known as
patau syndrome
what is 45, X
turner syndrome
turner syndrome only affects
girls
what is 47, XXY
kleinfelter syndrome
kleinfelter syndrome only affects
boys
down’s risk rises sharply with
maternal age
if a woman is 45 her risk of having a baby with downs is 1 in
30
if a woman is 20 her risk of having a baby with downs is 1 in
1500
what are some facial characteristics of downs syndrome
small nose, depressed nasal bridge, small ears, open mouth with protruding tongue, brachycephaly, upward sloping palpebral fissue, epicanthic folds
what is brachycephaly
short head
what are epicanthic folds
upper eyelid folds
