NUR 313 Exam 2 Practice Questions and Correct Answers
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Course
NUR 313
Institution
NUR 313
All normal human cells contain _____ chromosomes in _____ pairs 46 ; 23
Autosomes control ______________________ most body traits (not sex chromosomes)
How many pairs of chromosomes are considered autosomes? 22 of the 23 pairs
What is the single pair of chromosomes that is not an autosome called...
NUR 313 Exam 2 Practice Questions and
Correct Answers
All normal human cells contain _____ chromosomes in _____ pairs ✅46 ; 23
Autosomes control ______________________ ✅most body traits (not sex
chromosomes)
How many pairs of chromosomes are considered autosomes? ✅22 of the 23 pairs
What is the single pair of chromosomes that is not an autosome called? ✅the sex
chromosome or gamete
Is the X chromosome male or female? ✅female
Is the Y chromosome male or female? ✅male
The Y chromosome is primarily concerned with _____________________________
✅sex determination
The presence of a Y chromosome causes an embryo to develop as a ______________
✅male
The absence of a Y chromosome causes an embryo to develop as a ______________
✅female
In a normal female, the homologous pair of sex chromosomes are ______ ✅XX
In a normal male, the homologous pair of sex chromosomes are ______ ✅XY
An individual having two copies of the same allele for a given trait is said to be
____________________ for that trait ✅homozygous
An individual having two different alleles for a given trait is said to be
____________________ for that trait ✅heterozygous
What is a genotype? ✅genetic makeup of an individual
What is a phenotype? ✅the observable trait of an individual's genotype
,What makes a trait dominant rather than recessive? ✅if the trait is expressed when
only one copy of the gene is present
What makes a trait recessive rather than dominant? ✅if the trait is expressed when
only 2 copies of the allele associated with that trait are present
What is a euploid cell? ✅a cell with the correct number of chromosomes within the cell
What is polyploidy? ✅when the deviation in the correct number of chromosomes is an
exact multiple of a chromosome set (23 chromosomes);
Uncommon in humans
What is aneuploidy? ✅when the deviation in the correct number of chromosomes is
not an exact multiple of a chromosome set (23 chromosomes)
What is the most commonly identified chromosome abnormality in humans and the
leading genetic cause of intellectual disability? ✅aneuploidy
What are the 2 types of aneuploidies? ✅monosomy
Trisomy
What is a monosomy (type of aneuploidy)? ✅the product of the union between a
normal gamete and a gamete that is missing a chromosome
What is a gamete? ✅a sex chromosome
How many chromosomes do monosomic individuals have in each of their cells? ✅45
chromosomes
What is the only full monosomy disorder seen in humans? ✅turner syndrome
What is a trisomy (type of aneuploidy)? ✅the product of the union of a normal gamete
with a gamete containing an extra chromosome
What's an example of a trisomy? ✅trisomy 21/down syndrome
What is a karyotype? ✅picture of chromosome pairs
What does the karyotype of down syndrome look like? ✅3 chromosomes under the
21st pair
What does the karyotype of turner syndrome look like? ✅only 1 of the 23rd pair of
chromosomes
, What is the most common genetic deviation in females? ✅turner syndrome
Why is turner syndrome sometimes referred to as "monosomy X (45, X)"? ✅b/c in
turner syndrome, the 45th chromosome is an X without a pair
What are the physical characteristics of turner syndrome? ✅- exhibits juvenile external
genitalia with undeveloped ovaries
- short
- often has webbing of the neck, a low hairline in the back, low-set ears, and
lymphedema of hands and feet
- intelligence may be impaired
What is the most common genetic deviation in males? ✅klinefelter syndrome
What is the other name for klinefelter syndrome? ✅trisomy XXY
What are the physical characteristics of klinefelter syndrome? ✅- small testes that do
not produce an adequate amount of testosterone
- the shortage of testosterone usually leads to delayed or incomplete puberty, breast
enlargement (gynecomastia), a reduction of facial and body hair, and infertility
- often tall
- often have learning disabilities and delayed speech
What is multifactorial genetic inheritance? ✅congenital malformations due to a
combination of genetic and environmental factors
What are examples of genetic disorders with multifactorial inheritance? ✅- spina bifida
- cleft lip
- congenital heart disease
- neural tube defects
Autosomal dominant, autosomal recessive, and X-linked dominant, and X-linked
recessive modes of inheritance are all disorders with ___________________________
inheritence ✅unifactorial
What is unifactorial genetic inheritance? ✅when a single gene controls a particular trait
or disorder;
Also called single-gene inheritance
What are the potential patterns of inheritance for single-gene disorders? ✅- autosomal
dominant
- autosomal recessive
- X-linked dominant
- X-linked recessive
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