Down Syndrome

Question 1

symptoms or characteristics

Answer 1

low muscle tone
flat facial features, small nose
upward slant of eyes
small, abnormally shaped ears
hyper flexibility
enlarged tongue
short neck
small hands and feet
shorter in height
line across palm of hand
tiny white spots on eyes iris

Question 2

what is trisomy 21 down syndrome

Answer 2

• not inherited
• caused by abnormal cell division during development of sperm or egg
• child has 3 copies of chromosome 21 instead of 2

Question 3

percentage of trisomy 21 down syndrome

Answer 3

95%

Question 4

summary of down syndrome

Answer 4

chromosomal condition associated with intellectual disability, a characteristic facial appearance and weak muscle tone in infants

Question 5

percentage of translocation down syndrome

Answer 5

3%

Question 6

what is translocation down syndrome

Answer 6

• inherited by unaffected parent (carrier)
• part of chromosome 21 becomes attached (translocated) onto another chromosome before or at conception
• results in 2 usual copies of chromosome 21 as well as additional material from chromosome 21 attached to the translocated chromosome

Question 7

percentage of mosaic down syndrome

Answer 7

2%

Question 8

risk factors

Answer 8

• advancing maternal age (over 35) - chances increase because older eggs have a greater risk of improper chromosome division
• other children with down syndrome
• carries of translocation for down syndrome

Question 10

what is mosaic down syndrome

Answer 10

• not inherited
• caused by abnormal cell division after fertilisation
• results in some cells having 3 copies of chromosome 21 and some having the usual 2 copies