Nursing Role in Genetic Assessment and Counseling

Question 1

Is an experimental technique that uses gene to treat or prevent disease

Answer 1

Gene Replacement Theory

Question 2

DNA is inserted, deleted modified, or replaced in the genome of a living organism targets the insertions to site-specific locations.

Answer 2

Gene Editing

Question 3

Inherited or genetic disorders are disorders that can be passed from one generation to the next because they result from some disorder in the gene or chromosome structure.

Answer 3

Genetic Disorders

Question 4

Is the study of the way such disorders occur.

Answer 4

Genetics

Question 5

is the study of chromosomes by light microscopy and the method by which chromosomal aberrations are identified

Answer 5

Cytogenetics

Question 6

are the basic units of heredity that determine both physical and cognitive characteristics of people

Answer 6

Genes

Question 7

are composed of segments of DNA, which are woven into strands in the nucleus of all body cells to form chromosomes.

Answer 7

Genes

Question 8

Are the two like genes on autosomes

Answer 8

Alleles

Question 9

Refers to a person’s outward appearance or the expression of genes.

Answer 9

Phenotype

Question 10

refers to a person’s actual gene composition.

Answer 10

Genotype

Question 11

is the complete set of genes present (about 50, 000 to 100,000)

Answer 11

Genome

Question 12

the basic unit of genetic information

Answer 12

Gene

Question 13

The storage unit of genes

Answer 13

Chromosomes

Question 14

is a nucleic acid that contains the genetic instructions specifying the biological development of all cellular forms of life

Answer 14

DNA

Question 15

He describes that when the dominant gene is paired with nondominant (recessive) ones, the dominant genes are always expressed in preference to the recessive genes.

Answer 15

Gregor Mendel

Question 16

2 healthy genes

Answer 16

Homozygous

Question 17

2 unhealthy genes

Answer 17

Heterozygous

Question 18

An allele is expressed even if it is paired with a recessive allele.

Answer 18

Dominant

Question 19

An allele is only visible when paired with another recessive allele.

Answer 19

Recessive

Question 20

The disease does not occur unless 2 genes for the disease are present

Answer 20

Autosomal Recessive (Homozygous recessive pattern)

Question 21

either a person has 2 unhealthy genes

Answer 21

Autosomal Dominant (Homozygous Dominant

Question 22

Genes are located on and transmitted only by the female sex chromosome (X chromosome)

Answer 22

X-linked Dominant Inheritance

Question 23

Usually, only males will have the disorder

Answer 23

X-linked Recessive Inheritance

Question 24

From multiple gene combinations plus environmental factors

Answer 24

Multifactorial (Polygenic) Inheritance

Question 25

How do you define chromosomal abnormalities?

Answer 25

Chromosomal abnormalities occur because of the fault of the number/structure of chromosomes which results in missing or distorted genes

Question 26

When chromosomes are photographed and displayed, the resulting arrangement is termed as?

Answer 26

Karyotype

Question 27

FISH means?

Answer 27

Fluorescent in situ hybirdization

Question 28

The number of chromosomes and specific parts of chromosomes can be identified by karyotyping or by this process

Answer 28

FISH (Fluorescent in situ hybirdization)

Question 29

What do you call when the division is uneven?

Answer 29

Nondisjunction

Question 30

Why the division is uneven?

Answer 30

The division is uneven resulting in 1 sperm/ovum having 24 & other 22

Question 31

Is it possible if we fuse it with a normal sperm/ovum?

Answer 31

Yes, the zygote will have 47 or 45 chromosomes

Question 32

Chromosome disorder in which part of the chromosomes breaks during cell division, causing the affected person to have a normal # of chromosomes and an extra portion of chromosome

Answer 32

Deletion abnormalities

Question 33

A child gains an additional chromosome through another route

Answer 33

Translocation Abnormalities

Question 34

when the nondisjunction disorder occurs after the fertilization of the ovum, as the structure begins mitotic cell division

Answer 34

Mosaicism

Question 35

Chromosome accidentally divides not by a vertical separation but by a horizontal one, a new chromosome with mismatched long and short arms can result

Answer 35

Isochromosomes

Question 36

extra chromosomes 13, severely cognitively challenged

Answer 36

Trisomy 13 syndrome or PATAU syndrome

Question 37

males with extra X chromosomes and no development of secondary sex characteristics during puberty

Answer 37

Klinefelter Syndrome

Question 38

they have 3 copies of chromosome 18 severely cognitively challenged, SGA, low-set ears, small jaw, congenital heart defects, misshapen fingers & toes, rocker-bottom feet

Answer 38

Trisomy 18

Question 39

result of the missing portion of chromosome 5

Answer 39

Cri-du-chat syndrome

Question 40

most frequently occurring chromosomal abnormality (1 in 800 pregnancies)

Answer 40

Down Syndrome

Question 41

When paired with other genes, this gene is always expressed as?

Answer 41

Dominant

Question 42

If blonde hair color is a recessive trait and one parent is heterozygous for the trait and the other parent is heterozygous for the trait, what are the chances that their offspring will have blonde-hair

Answer 42

50% (two in four)