DOWN SYNDROME

Question 1

• a condition in which a person has an extra chromosome.
• Born by the presence of a full or partial extra copy of chromosome 21
• The most common chromosomal disorder

Answer 1

down syndrome

Question 2

how many chromosomes does a person with down syndrome have?

Answer 2

47

Question 3

all cells have an extra copy of chromose 21

Answer 3

trisomy 21

Question 4

only some cells have an extra copy of chromose 21

Answer 4

mosaic

Question 5

the extra copy is attached to another chromosome

Answer 5

translocation

Question 6

• cause of down syndrome is not known
• greater risk for older women particularly those over 35 years of age
• paternal age is a factor, especially if the father is 55 years of age or older
• Developing embryo receives 3 copies of chromosome 21 instead of the usual 2

Answer 6

trisomy 21

Question 7

• genetic aberration is usually hereditary
• Part of the entire extra chromosome 21 becomes attached (translocated) to another chromosome, such as chromosome 14
• Total number of chromosomes remains 46

Answer 7

translocation down syndrome

Question 8

• cell populations with both normal and abnormal chromosomes are present
• Syndrome may have fewer characteristics

Answer 8

mosaic down syndrome

Question 9

risk factors

Answer 9

older maternal age
older paternal age
already have a child with down syndrome
carriers of the genetic translocation

Question 10

clinical manifestations

Answer 10

brachcephaly
short neck
joint laxity
mental retardation
simean palmar crease
protruding tongue
mouth hanging open
abnormal teeth

Question 11

down syndrome can be detected prenatally around ___ weeks of gestation using ultrasound
& blood test

Answer 11

16-18

Question 12

laboratory tests

Answer 12

• Chorionic villus sampling and
  amniocentesis
• Triple test: AFP, unconjugated
  estriol and hCG
• Ultrasound – nuchal
  translucency
• Percutaneous cord blood
  sampling

Question 13

❖Refers to a variety of specialized programs and resources available to young children with developmental delay or other impairment
❖Provides stimulation and encouragement to children with down syndrome
❖Programs are individualized to meet the specific needs of each child
❖Help the development of gross and fine motor skills, language and selfcare skills

Answer 13

early intervention therapy

Question 14

Have your child evaluated by a pediatric cardiologist
before ___ of age, including an echocardiogram

Answer 14

3 mos

Question 15

Make sure your child gets regular medical care, including a yearly ___

Answer 15

thyroid test

Question 16

Monitor for signs and symptoms respiratory infection,
such as ___ and ____

Answer 16

pneumonia and otitis media

Question 17

Make sure the child gets a cervical x-ray between 3 to 5 years of age to screen for ___

Answer 17

atalnto-axial instability

Question 18

Make sure your child brushes his or her teeth regularly he or she should visit the dentist every ___

Answer 18

6 mos

Question 19

• Life expectancy for those with Down syndrome: Over ___% of individuals with down syndrome survive to age ___ years and beyond

Answer 19

80%
55 years old

Question 20

median age of life expectancy for people with down syndrome:

white
black
others

Answer 20

white - 50 years
black - 25 years
others - 10 years

Question 21

After prenatal diagnosis, ___%
of Down syndrome children in
America are aborted.

Answer 21

90%

Question 22

according to ___, feb is national down syndrome consciousness month

Answer 22

proclamation no 157

Question 23

world down syndrome day

Answer 23

march 21