©Themoon EXAM SOLUTIONS
26/11/2024 10:59AM
NR 283 Week 1 Exam Questions and
Answers
Autosomal Recessive Disorders - Answers✓✓Cystic fibrosis, phenylketonuria, sickle cell
anemia, Tay-Sachs disease
Autosomal Dominant Disorders - Answers✓✓Adult polycystic kidney disease, Huntington
chorea, familial hypercholesterolemia, Marfan syndrome
X-Linked Recessive Disorders - Answers✓✓Color blindness, Duchenne muscular dystrophy,
Hemophilia A
X-Linked Dominant Disorders - Answers✓✓Fragile X syndrome
Chromosomal Disorders - Answers✓✓Down syndrome, Turner syndrome XO, Klinefelter
syndrome XXY
Turner Syndrome - Answers✓✓Only affects females where one X chromosome is missing or
partially missing.
Klinefelter syndrome - Answers✓✓only affects males where an extra X chromosome is
present.
, ©Themoon EXAM SOLUTIONS
26/11/2024 10:59AM
Multifactorial Disorders - Answers✓✓Genetic influences combined with environmental
factors. Examples include cleft palate, congenital hip dislocation, congenital heart disease, and
type 2 diabetes mellitus.
Developmental Disorders - Answers✓✓Exposure to drugs, chemicals, or radiation during child-
bearing years causes what?
TORCH acronym - Answers✓✓Represents maternal infections that can result in anomalies.
Toxoplasmosis
Other (Syphilis, Varicella, HIV)
Rubella
Cytomegalovirus
Herpes
When should diagnostic tools be used for disorders? - Answers✓✓May be available prior to
conception, during the first trimester, and in newborns.
Testing is recommended for those with a family history of a specific disease, previous birth to
child with abnormality, ethnic groups with high risks, pregnant women over 35.
What are the different diagnostic tools used? - Answers✓✓Blood tests of pregnant mom
(Alpha-fetoprotein testing), In utero testing (Amniocentesis, chorionic villi assay), Neonatal
testing (Excreted metabolites like PKU, blood testing).
Genetic Engineering - Answers✓✓Isolating, copying, and transplanting genes. Goal is to insert
normally functioning allele to prevent disease. No clinical trials have been uniformly
successful.
26/11/2024 10:59AM
NR 283 Week 1 Exam Questions and
Answers
Autosomal Recessive Disorders - Answers✓✓Cystic fibrosis, phenylketonuria, sickle cell
anemia, Tay-Sachs disease
Autosomal Dominant Disorders - Answers✓✓Adult polycystic kidney disease, Huntington
chorea, familial hypercholesterolemia, Marfan syndrome
X-Linked Recessive Disorders - Answers✓✓Color blindness, Duchenne muscular dystrophy,
Hemophilia A
X-Linked Dominant Disorders - Answers✓✓Fragile X syndrome
Chromosomal Disorders - Answers✓✓Down syndrome, Turner syndrome XO, Klinefelter
syndrome XXY
Turner Syndrome - Answers✓✓Only affects females where one X chromosome is missing or
partially missing.
Klinefelter syndrome - Answers✓✓only affects males where an extra X chromosome is
present.
, ©Themoon EXAM SOLUTIONS
26/11/2024 10:59AM
Multifactorial Disorders - Answers✓✓Genetic influences combined with environmental
factors. Examples include cleft palate, congenital hip dislocation, congenital heart disease, and
type 2 diabetes mellitus.
Developmental Disorders - Answers✓✓Exposure to drugs, chemicals, or radiation during child-
bearing years causes what?
TORCH acronym - Answers✓✓Represents maternal infections that can result in anomalies.
Toxoplasmosis
Other (Syphilis, Varicella, HIV)
Rubella
Cytomegalovirus
Herpes
When should diagnostic tools be used for disorders? - Answers✓✓May be available prior to
conception, during the first trimester, and in newborns.
Testing is recommended for those with a family history of a specific disease, previous birth to
child with abnormality, ethnic groups with high risks, pregnant women over 35.
What are the different diagnostic tools used? - Answers✓✓Blood tests of pregnant mom
(Alpha-fetoprotein testing), In utero testing (Amniocentesis, chorionic villi assay), Neonatal
testing (Excreted metabolites like PKU, blood testing).
Genetic Engineering - Answers✓✓Isolating, copying, and transplanting genes. Goal is to insert
normally functioning allele to prevent disease. No clinical trials have been uniformly
successful.
