NURS 6501 ADVANCED PATHOPHYSIOLOGY LATEST FINAL
EXAM 2024/2025 QUESTIONS AND VERIFIED CORRECT
ANSWERS/ ALREADY GRADED A++
Down Syndrome - ANSWER •Epicanthal fold
•Brushfield spots (white spots on iris)
•Microcephaly
•Flattened nose, protruding tongue, & low set ears (shell-like)
•Short hands/fingers with transverse palmers creases, 5thdigit curves
inward
•Delayed growth, development
•Mental retardation across spectrum of low to high function
•Hypotonic muscles
•Delayed social skills
Klinefelter's Syndrome - ANSWER •At lease 2 x and 1Y
•Male appearance
•Sterile
•Gynecomastia (50%)
•Small testes, sparse body hair
•High pitched voice
•Moderate degree of MR
•Nondisjunction of X in mother
•Incidence increases with maternal age
Turner Syndrome Manifestations - ANSWER Not considered retarded, but
some impairment of spatial & mathematical ability
•Coarctation of the aorta
•Dysfx. of liver, thyroid, heart, & kidneyRISKS
Risks associated with Turner Syndrome - ANSWER DM
•OSTEOPOROSIS
•Scoliosis
•Hip dislocation
•HTN
•Cancer of gonadal tissue
Turner Syndrome - ANSWER •45-X(single X chrom.)
•Meiotic error in father
,•Short stature with skeletal abnormalities
•Droopy eyelids
•Hearing loss
•Webbed neck
•Low hairline
•Lack of secondary sex characteristics -no menstruation; infertile
Allele - ANSWER Form of a gene
Homozygous - ANSWER Identical genes BB
Heterozygous - ANSWER Different genes Bb
Genotype - ANSWER composition of genes on a particular locus
Phenotype - ANSWER Outward appearance resulting from genotype and
environment
Dominat Trait - ANSWER The observable trait from the allele
Recessive Trait - ANSWER The hidden trait from the allele
Codominance - ANSWER Both alleles are expressed
Carrier - ANSWER Has disease but is phenotypically normal
Cosanguinity - ANSWER inbreeding
Germline mosaicism - ANSWER carrier parents produce affected children
Karyotype - ANSWER ordered display of chromosomes from largest to
smallest
Homologous - ANSWER 22 pairs of identical chromosomes
Homologous X - ANSWER 2 Xs in female gamete
Non-homologous XY - ANSWER X & Y chromosome in a male gamete
Autosomes - ANSWER homologous chromosomes in females & males
,Aneuploidy - ANSWER cells that do not have a multiple of 23
chromosomes
Monosomy - ANSWER one copy of a given chromosome
Trisomy - ANSWER 3 copies of a given chromosome
Euploid - ANSWER cells having multiple of the normal number of
chromosomes
Fragile X Factor - ANSWER Autosomal Recessive on long arm of the "X"
chromosome
•Normal X has 5-55 repeats of CGG nucleotides:
-Ccytosine
-Guanine
-Guanine
•"Premutation" has 55-200 "repeats"
Fragile X Syndrome - ANSWER Mutation causes > 200 "repeats" of
nucleotides
Fragile X Syndrome (FXS) Manifestations - ANSWER Mental retardation
-Autism (leading cause)
-Epilepsy
-Generalized Anxiety Disorder
-ADHD
10Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) - ANSWER
Neurodegenerative disease manifesting with age
FNPs Responsibility in FXS & FXTAS - ANSWER -Recognition & Genetic
Counseling
-Referral for special education
-Existing Tx for Autism, GAD, Parkinson's
COMPLICATIONS OF KS - ANSWER Breast cancer
•Pulmonary disease
•Varicose veins
•Osteoporosis
, SNP Uses - ANSWER markers associated with certain diseases
Basic Cellular Functions - ANSWER 1. Movement
2. Conductivity
3. Excretion
4. Metabolic Absoption
5. Creation of ATP
6. Tissue Growth
7. Communication
8. Secretion
Functions of Plasma Membrane - ANSWER 1. Structure
2. Protection
3. Activation of Cell
4. Transport
5. Cell to Cell Interaction
Nucleus Function - ANSWER Membrane bound structure, controls cell
division and contains genetic
information/material
Cytoplasm - ANSWER Cytoplasmic matrix that surrounds organelles
Mitochondria - ANSWER Primary energy maker, responsible for cellular
respiration & energy
production, makes ATP
Smooth Endoplasmic Reticulum - ANSWER An endomembrane system
where lipids are synthesized, calcium levels are regulated, and toxic
substances are broken down.
Rough Endoplasmic Reticulum - ANSWER An endomembrane system
covered with ribosomes where many proteins for transport are assembled.
Golgi apparatus - ANSWER A system of membranes that modifies and
packages proteins for export by the cell
Lysosomes - ANSWER originate in Golgi, 40 digestive/degradative
enzymes that catalyze proteins,
EXAM 2024/2025 QUESTIONS AND VERIFIED CORRECT
ANSWERS/ ALREADY GRADED A++
Down Syndrome - ANSWER •Epicanthal fold
•Brushfield spots (white spots on iris)
•Microcephaly
•Flattened nose, protruding tongue, & low set ears (shell-like)
•Short hands/fingers with transverse palmers creases, 5thdigit curves
inward
•Delayed growth, development
•Mental retardation across spectrum of low to high function
•Hypotonic muscles
•Delayed social skills
Klinefelter's Syndrome - ANSWER •At lease 2 x and 1Y
•Male appearance
•Sterile
•Gynecomastia (50%)
•Small testes, sparse body hair
•High pitched voice
•Moderate degree of MR
•Nondisjunction of X in mother
•Incidence increases with maternal age
Turner Syndrome Manifestations - ANSWER Not considered retarded, but
some impairment of spatial & mathematical ability
•Coarctation of the aorta
•Dysfx. of liver, thyroid, heart, & kidneyRISKS
Risks associated with Turner Syndrome - ANSWER DM
•OSTEOPOROSIS
•Scoliosis
•Hip dislocation
•HTN
•Cancer of gonadal tissue
Turner Syndrome - ANSWER •45-X(single X chrom.)
•Meiotic error in father
,•Short stature with skeletal abnormalities
•Droopy eyelids
•Hearing loss
•Webbed neck
•Low hairline
•Lack of secondary sex characteristics -no menstruation; infertile
Allele - ANSWER Form of a gene
Homozygous - ANSWER Identical genes BB
Heterozygous - ANSWER Different genes Bb
Genotype - ANSWER composition of genes on a particular locus
Phenotype - ANSWER Outward appearance resulting from genotype and
environment
Dominat Trait - ANSWER The observable trait from the allele
Recessive Trait - ANSWER The hidden trait from the allele
Codominance - ANSWER Both alleles are expressed
Carrier - ANSWER Has disease but is phenotypically normal
Cosanguinity - ANSWER inbreeding
Germline mosaicism - ANSWER carrier parents produce affected children
Karyotype - ANSWER ordered display of chromosomes from largest to
smallest
Homologous - ANSWER 22 pairs of identical chromosomes
Homologous X - ANSWER 2 Xs in female gamete
Non-homologous XY - ANSWER X & Y chromosome in a male gamete
Autosomes - ANSWER homologous chromosomes in females & males
,Aneuploidy - ANSWER cells that do not have a multiple of 23
chromosomes
Monosomy - ANSWER one copy of a given chromosome
Trisomy - ANSWER 3 copies of a given chromosome
Euploid - ANSWER cells having multiple of the normal number of
chromosomes
Fragile X Factor - ANSWER Autosomal Recessive on long arm of the "X"
chromosome
•Normal X has 5-55 repeats of CGG nucleotides:
-Ccytosine
-Guanine
-Guanine
•"Premutation" has 55-200 "repeats"
Fragile X Syndrome - ANSWER Mutation causes > 200 "repeats" of
nucleotides
Fragile X Syndrome (FXS) Manifestations - ANSWER Mental retardation
-Autism (leading cause)
-Epilepsy
-Generalized Anxiety Disorder
-ADHD
10Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) - ANSWER
Neurodegenerative disease manifesting with age
FNPs Responsibility in FXS & FXTAS - ANSWER -Recognition & Genetic
Counseling
-Referral for special education
-Existing Tx for Autism, GAD, Parkinson's
COMPLICATIONS OF KS - ANSWER Breast cancer
•Pulmonary disease
•Varicose veins
•Osteoporosis
, SNP Uses - ANSWER markers associated with certain diseases
Basic Cellular Functions - ANSWER 1. Movement
2. Conductivity
3. Excretion
4. Metabolic Absoption
5. Creation of ATP
6. Tissue Growth
7. Communication
8. Secretion
Functions of Plasma Membrane - ANSWER 1. Structure
2. Protection
3. Activation of Cell
4. Transport
5. Cell to Cell Interaction
Nucleus Function - ANSWER Membrane bound structure, controls cell
division and contains genetic
information/material
Cytoplasm - ANSWER Cytoplasmic matrix that surrounds organelles
Mitochondria - ANSWER Primary energy maker, responsible for cellular
respiration & energy
production, makes ATP
Smooth Endoplasmic Reticulum - ANSWER An endomembrane system
where lipids are synthesized, calcium levels are regulated, and toxic
substances are broken down.
Rough Endoplasmic Reticulum - ANSWER An endomembrane system
covered with ribosomes where many proteins for transport are assembled.
Golgi apparatus - ANSWER A system of membranes that modifies and
packages proteins for export by the cell
Lysosomes - ANSWER originate in Golgi, 40 digestive/degradative
enzymes that catalyze proteins,
