Trisomy(s)

Question 1

Down syndrome

Answer 1

genetic disorder caused by the presence of a 21st chromosome

Question 2

Risk factors for down syndrome

Answer 2

moms over 35, dads over 50

Question 3

Characteristic features of down syndrome

Answer 3

slanted eyes, depressed nasal bridge

Question 4

What other health problems are common

Answer 4

cardiac problems, hearing and visual impairment, intestinal malformations, low muscle tone, increased susceptibility to disease, sleep apnea, thyroid disease, hematologic problems

Question 5

What are most cases caused by

Answer 5

nondisjunction (error in cell division)

Question 6

What is the goal of therapeutic management

Answer 6

promote optimal growth, development, and function in the scope of the disease

Question 7

What does treatment focus on

Answer 7

treatment focuses on symptoms and support

Question 8

When is it diagnosed

Answer 8

prenatally or in the first few days of life

Question 9

Laboratory and diagnostic tests

Answer 9

ultrasound, blood tests, amniocentesis, confirmed with chromosomal analysis after birth

Question 10

Patau syndrome

Answer 10

genetic disorder caused by the presence of extra 13th chromosome

Question 11

Edward’s syndrome

Answer 11

genetic disorder caused by the presence of extra 18th chromosome

Question 12

Characteristics of Patau syndrome

Answer 12

microcephalic head, wide fontanels, severe hypotonia, intellectual disability, congenital heart defects

Question 13

Characteristics of Edward’s syndrome

Answer 13

severe intellectual disability, webbing, hypoplasia of fingernails, clenched fists, short sternum, narrow hips, congenital heart defects

Question 14

What type of trisomy is the most severe

Answer 14

Edward’s syndrome

Question 15

What is nursing management like for trisomy 13 and 18

Answer 15

supportive