MCCANCE PATHOPHYSIOLOGY THE
BIOLOGIC BASIS FOR DISEASE IN ADULTS AND
CHILDREN 8TH EDITION 2026 MOCK EXAM
PRACTICE SET WITH SOLUTIONS A+
◉ Multiple X Females (XXX). Answer: Relatively common
Menstrual abnormalities; retardation tendency with more than 4 X
chromosomes
◉ Double Y Males (XYY). Answer: Relatively common
Generally taller than average
◉ Autosomal Dominant Disorders. Answer: Due to mutation of a
specific autosomal gene
Males/females equally affected
Usually 1 affected parent
Unaffected individuals do not transmit disease
Offspring of 1 affected parent with unaffected mate: 1 in 2 chance of
inheritance
Offspring of 2 affected parents: 3 in 4 chance
,◉ Marfan Syndrome. Answer: Autosomal dominant connective
tissue disorder
Typically tall, slender; long, thin arms/legs; long, thin fingers
(arachnodactyly)
Cardiovascular lesions most life-threatening
Aorta tends to be weak, susceptible to dilation/rupture
Traced to mutations in fibrillin 1 gene on chromosome 15
*these patients have weaker valved because they have problems
forming connective tissue
◉ Huntington Disease. Answer: An autosomal dominant disorder
that primarily affects neurological function
Symptoms appear after age 40
Mental deterioration, involuntary arm/leg movements
Parent may transmit to offspring before becoming aware of defective
gene
◉ Autosomal Recessive Disorders. Answer: Mutation of autosomal
recessive gene
Males/females equally affected
Usually not apparent in affected individual's parents; both parents
carriers of mutant recessive gene
Unaffected individuals may transmit to offspring
,-Two carriers have 1 in 4 chance of having affected offspring and 2 in
4 chance of having carrier offspring
Often associated with consanguinity, the mating of family members
(familial aspect of two carriers having same recessive gene)
Often involve abnormal enzymatic functions
◉ Cystic Fibrosis. Answer: Most common of the autosomal recessive
dissorders (occuring in 1 out of 3,700 births)
Production of abnormally thick secretions in glandular tissues from
a defect in chloride transport across the cell membrane
Cystic fibrosis transmembrane conductase regulator (CFTR) is a
transmembrane protein that transports chloride from the cytoplasm
into the lumen of the bronchiole.
Mutations in the CFTR transporter gene are believed to cause the
thick secretions typical of cystic fibrosis.
Water is just going in one direction so it is much drier in patients
with Cystic Fibrosis
◉ Phenylketonuria. Answer: Inborn error of metabolism: cannot
metabolize phenylalanine (lack enzyme phenylalanine hydroxylase);
test for this disorder at birth
, We test for this in newborns right abfter birth (this disease can be
managed with diet)
◉ Tay Sachs Disease. Answer: Lysosomal storage disease
Mutation on chromosome 15
Deficiency of lysososmal enzyme: hexosaminidase A
Ashkenazi Jews
Ganglioside accumulates in the cells, particularly the central nervous
system, causing progressive destruction of neurons and brain cells
Infants born with Tay Sachs disease appear normal until
approximately 6 months of age.
As the infant matures, motor incoordination, lethargy, muscle
flaccidity, and increasing cognitive impairment become apparent.
A characteristic that is diagnostic of Tay Sachs disease is a "cherry
red spot" seen on the retina on ophthalmological examination.
Death usually occurs by age 3 years.
Prenatal diagnosis and carrier detection of Tay Sachs disease is
possible.
◉ Sex Linked Disorders. Answer: Carrier female has 1in 2 chance of
producing an affected son or carrier daughter
Females rarely affected
BIOLOGIC BASIS FOR DISEASE IN ADULTS AND
CHILDREN 8TH EDITION 2026 MOCK EXAM
PRACTICE SET WITH SOLUTIONS A+
◉ Multiple X Females (XXX). Answer: Relatively common
Menstrual abnormalities; retardation tendency with more than 4 X
chromosomes
◉ Double Y Males (XYY). Answer: Relatively common
Generally taller than average
◉ Autosomal Dominant Disorders. Answer: Due to mutation of a
specific autosomal gene
Males/females equally affected
Usually 1 affected parent
Unaffected individuals do not transmit disease
Offspring of 1 affected parent with unaffected mate: 1 in 2 chance of
inheritance
Offspring of 2 affected parents: 3 in 4 chance
,◉ Marfan Syndrome. Answer: Autosomal dominant connective
tissue disorder
Typically tall, slender; long, thin arms/legs; long, thin fingers
(arachnodactyly)
Cardiovascular lesions most life-threatening
Aorta tends to be weak, susceptible to dilation/rupture
Traced to mutations in fibrillin 1 gene on chromosome 15
*these patients have weaker valved because they have problems
forming connective tissue
◉ Huntington Disease. Answer: An autosomal dominant disorder
that primarily affects neurological function
Symptoms appear after age 40
Mental deterioration, involuntary arm/leg movements
Parent may transmit to offspring before becoming aware of defective
gene
◉ Autosomal Recessive Disorders. Answer: Mutation of autosomal
recessive gene
Males/females equally affected
Usually not apparent in affected individual's parents; both parents
carriers of mutant recessive gene
Unaffected individuals may transmit to offspring
,-Two carriers have 1 in 4 chance of having affected offspring and 2 in
4 chance of having carrier offspring
Often associated with consanguinity, the mating of family members
(familial aspect of two carriers having same recessive gene)
Often involve abnormal enzymatic functions
◉ Cystic Fibrosis. Answer: Most common of the autosomal recessive
dissorders (occuring in 1 out of 3,700 births)
Production of abnormally thick secretions in glandular tissues from
a defect in chloride transport across the cell membrane
Cystic fibrosis transmembrane conductase regulator (CFTR) is a
transmembrane protein that transports chloride from the cytoplasm
into the lumen of the bronchiole.
Mutations in the CFTR transporter gene are believed to cause the
thick secretions typical of cystic fibrosis.
Water is just going in one direction so it is much drier in patients
with Cystic Fibrosis
◉ Phenylketonuria. Answer: Inborn error of metabolism: cannot
metabolize phenylalanine (lack enzyme phenylalanine hydroxylase);
test for this disorder at birth
, We test for this in newborns right abfter birth (this disease can be
managed with diet)
◉ Tay Sachs Disease. Answer: Lysosomal storage disease
Mutation on chromosome 15
Deficiency of lysososmal enzyme: hexosaminidase A
Ashkenazi Jews
Ganglioside accumulates in the cells, particularly the central nervous
system, causing progressive destruction of neurons and brain cells
Infants born with Tay Sachs disease appear normal until
approximately 6 months of age.
As the infant matures, motor incoordination, lethargy, muscle
flaccidity, and increasing cognitive impairment become apparent.
A characteristic that is diagnostic of Tay Sachs disease is a "cherry
red spot" seen on the retina on ophthalmological examination.
Death usually occurs by age 3 years.
Prenatal diagnosis and carrier detection of Tay Sachs disease is
possible.
◉ Sex Linked Disorders. Answer: Carrier female has 1in 2 chance of
producing an affected son or carrier daughter
Females rarely affected
