Chapter 6 - Genetic & Congenital Disorders

Question 1

Homozygous?

Answer 1

Same gene

If all your copies of a gene are alike

Question 2

Heterozygous?

Answer 2

Different gene

Question 3

Hemizygous?

Answer 3

If you have only one copy of a gene

Question 4

What is a Karyotype?

Answer 4

Easy blood test to see/ confirm genetic makeup

Question 5

Single gene = ___________

Answer 5

1 gene (NOT genes)

Question 6

Marfan syndrome is what type of disorder?

Answer 6

A connective tissue disorder

Question 7

Marfan syndrome affects what parts of the body?

Answer 7

• the skeleton
• eyes
• cardiovascular system

Question 8

The most life threatening effects from Marfan syndrome are what?

Answer 8

Cardiovascular defects

“Heart problems”

Question 9

What does PKU stand for?

Answer 9

Phenylketonuria

Question 10

Phenylketonuria (PKU) is what type of disorder?

Answer 10

Autosomal Disorder

Question 11

What is phenylalanine?

Answer 11

A protein

Question 12

Those with PKU have a deficiency of the liver enzyme known as _____________ ?

Answer 12

Phenylalanine

Question 13

Individuals with PKU don’t have the enzymes to process/break down the amino acid phenylalanine (which is a protein)

Therefore individuals with PKU should do what?

Answer 13

Have a diet that restricts phenylalanine(protein)

Question 14

Fragile X syndrome affects what gender more?

Answer 14

Affects more MALES

Question 15

Fragile X syndrome is associated with what?

Answer 15

A fragile site on the X chromosome where the chromatin fails to condense during mitosis

Question 16

___________________ is the second most common cause of mental retardation after Down syndrome

Answer 16

Fragile X syndrome

Question 17

What is the biggest cause of of cleft lip & cleft palate?

Answer 17

• Rubella & anticonvulsant drugs

** pregnant women SHOULD NOT be around people with Rubella

Question 18

Trisomy 21 is what type of chromosomal disorder?

Answer 18

Down syndrome

Question 19

Monosomy X is what type of chromosomal disorder?

Answer 19

Turner syndrome

Question 20

Polosomy X is what type of chromosomal disorder?

Answer 20

Klinefelter syndrome

Question 21

What are the physical features of Down’s syndrome?

Answer 21

• Growth failure
• Flat face w/ small nose & square head
• upward slanting of eyes
• Low set & malformed ears (ears are larger)
• Large protruding tongue

Question 22

What is Hypotonicity?

Answer 22

Lack of muscle tone

Question 23

What are 3 complications associated with Down’s syndrome?

Answer 23

• Congenital heart disease
• intestinal malformations
• Acute lymphoblastic leukemia

Question 24

What is/causes Turner syndrome?

Answer 24

An absence of part or all of the X chromosome

Question 25

What are the signs and symptoms of Turner syndrome?

Answer 25

• Small stature
• No menstruation
• No signs of secondary characteristics
• Congenital heart defects

Question 26

What diagnostic test is used for Turner syndrome?

Answer 26

Echocardiogram

Question 27

What causes Klinefelter Syndrome?

Answer 27

The presence of one or more extra X chromosomes.

** Sex chromosome will look XXY

Question 28

Klinefelter Syndrome affects what gender more?

Answer 28

Affects more men

Question 29

What are the signs & symptoms of Klinefelter Syndrome?

Answer 29

• Enlarged breasts
• sparse facial and body hair
• small testes
• inability to produce sperm

Question 30

What do Teratogenic agents do?

Answer 30

Produce abnormalities during embryonic or fetal development

Question 31

Examples of teratogenic agents?

Answer 31

• Radiation
• Drugs & Chemicals
• Infectious agents
• Rubella

Question 32

What is the average length of full-term newborns

Answer 32

Range for most newborn= 18-22inches

Average = 19-20inches