Genetic Disorders

Question 1

what is a genetic disorder?

Answer 1

• a disease caused by genetic mutation that is either inherited or arises spontaneously
• a disorder in gene or chromosome structure

Question 2

-how many pairs of chromosomes do people normally have?

Answer 2

23 (means 46 chromosomes in total)

Question 3

what is meant by a dominant gene disorder?

Answer 3

• o Refers to a characteristic that is apparent when the relevant gene is present in only one copy. A dominant disorder can be inherited from only one parent
• if one parent is affected and one not, have a 50% chance of inheriting

Question 4

what is meant by a recessive gene disorder?

Answer 4

• for a recessive allele to produce a recessive phenotype, the individual must have two copies, one from each parent
• Both parents carry a single defective gene (d) but are protected by the presence of a normal gene (N), which is generally sufficient for normal function. Two defective copies of the gene are required to produce a disorder. Each child has a 50 percent chance of being a carrier like both parents and a 25 percent risk of inheriting the disorder.
• 1/4 chance of getting

Question 5

what are genes?

Answer 5

the basic units of heredity that determine both the physical and mental characteristics of people
-composed of segments of DNA

Question 6

are male or female children at risk of X-linked disorders?

Answer 6

• males
• carried by mother, male has 50% chance of inheriting
• women are protected by their other x chromosome, but men lack this
• however, women have a 50% chance of being a carrier

Question 7

what are the two general types of chromosome abnormalities?

Answer 7

numerical

structural

Question 8

what is meant by a numerical chromosome abnormality?

Answer 8

-an entire single chromosome is either missing or added

Question 9

what is meant by a structural chromosome abnormality?

Answer 9

-part of chromosome is missing or added, rearranged, adhered to another, or has a fragility on a site

Question 10

what are some examples of numerical chromosome abnormalities?

Answer 10

• trisomy - an extra copy of one chromosome

- monosomy - missing one chromosome

Question 11

what monosomy is compatible with life?

Answer 11

turner’s syndrome

-it is the most common sex chromosome abnormality in females, they have a single x chromosome

Question 12

what is karyotype?

Answer 12

pictorial analysis of chromosomes obtained from treated and stained peripheral blood lymphocytes

Question 13

what is kleinfelter syndrome?

Answer 13

• a syndrome where males have an extra x chromosome

- have delayed language development, issues with auditory processing, and emotional problems

Question 14

what kind of chromosomal abnormality is downs syndrome?

Answer 14

a trisomy

each cell has three copies of chromosome 21

Question 15

what are some effects of trisomy 13?

Answer 15

• mental retardation
• hypotonia
• CHD

Question 16

what is hemophilia?

Answer 16

a deficiency in clotting factor VIII

it is an x-linked recessive trait

Question 17

what is the nursing role with genetic disorders?

Answer 17

• provide emotional support
• be aware of personal values
• teaching
• be aware of grieving process that may be occurring
• locate appropriate support services

Question 18

what are multifactorial disorders?

Answer 18

• disorders that occur because of interaction of genetic and environmental factors
• are present at birth
• isolated defects that occur with other unrelated abnormalities

Question 19

what environmental influences can cause multifactorial disorders?

Answer 19

-teratogens (drugs, infections, tobacco, pollutants, radiation, diabetes)

Question 20

what are mechanical influences that can cause multifactorial disorders?

Answer 20

-oligohydramnios, fibrous amniotic bands