PLTW MEDICAL INTERVENTIONS UNIT
2 EXAM QUESTIONS AND ANSWERS.
VERIFIED 2026.
Single-Gene Disorder - ANS Mutation in one gene, causes one protein to be made incorrectly
Multifactorial Disorder - ANS Caused by a variety of mutations in several genes and introns as
well as environmental factors. They are often the cause of several chronic disorders.
Chromosomal Disorders - ANS Normal: 44 (22 pairs) autosomal chromosomes and 2 (1 pair)
sex chromosomes.
Whole/partial missing/extra chromosome
Diagnosed with karyotypes (picture of the chromosomes)
Mitochondrial Disorders - ANS Caused by mutations in mitochondrial DNA (not in the
nucleus). Mitochondrial DNA is only passed down by the mother (only one copy of the gene).
Deals with energy and metabolism. It usually affects all cells in the body, but not always.
Carrier Screening - ANS Determines genotype of an individual when it cannot be determined
using a pedigree or the phenotype. It is often used by perspective parents to see if they are
carriers for a certain disease present in their families.
1 @COPYRIGHT 2025/2026 ALLRIGHTS RESERVED.
, Preimplantation Genetic Diagnosis - ANS Used following in vitro fertilization. Babies are
tested for genetic defects and only healthy babies are inserted into the mother.
Amniocentesis - ANS Done during the second trimester of pregnancy. Takes a sample of the
amniotic fluid for genetic testing (requires use of an ultrasound)
Chorionic Villi Sampling - ANS Done during the first trimester of pregnancy. It cannot detect
neural tube defects. Takes a sample of chorionic villi on placenta wall for genetic testing
(requires use of an ultrasound)
Ultrasound - ANS Takes video of baby in womb, can determine fetus' age and sex, as well as
physical defects. It is also used to see the heartbeat and diagnose a pregnancy.
Newborn Screening - ANS Newborn babies are tested for a variety of genetic disorders and
defects. Tests vary from state to state.
Duchenne Muscular Distrophy - ANS Sex-linked recessive disorder, causes body to not make
protein dystrophin, causing muscle weakness.
Cystic Fibrosis - ANS Autosomal recessive, Causes problem in CFTR Protein, causing
mucus to clog lungs, persistent cough, and other lung problems.
Huntington's Disease - ANS Autosomal dominant, doesn't show symptoms until later
in life. Makes defective protein known as Huntington. It is a degenerative brain disease
characterized by abnormal movements and a severe decline in thinking and reasoning skills.
Down Syndrome - ANS Caused by a problem after/during conception (missing whole/partial
chromosome 21). Characterized by small stature, physical defects, and mental retardation.
2 @COPYRIGHT 2025/2026 ALLRIGHTS RESERVED.
2 EXAM QUESTIONS AND ANSWERS.
VERIFIED 2026.
Single-Gene Disorder - ANS Mutation in one gene, causes one protein to be made incorrectly
Multifactorial Disorder - ANS Caused by a variety of mutations in several genes and introns as
well as environmental factors. They are often the cause of several chronic disorders.
Chromosomal Disorders - ANS Normal: 44 (22 pairs) autosomal chromosomes and 2 (1 pair)
sex chromosomes.
Whole/partial missing/extra chromosome
Diagnosed with karyotypes (picture of the chromosomes)
Mitochondrial Disorders - ANS Caused by mutations in mitochondrial DNA (not in the
nucleus). Mitochondrial DNA is only passed down by the mother (only one copy of the gene).
Deals with energy and metabolism. It usually affects all cells in the body, but not always.
Carrier Screening - ANS Determines genotype of an individual when it cannot be determined
using a pedigree or the phenotype. It is often used by perspective parents to see if they are
carriers for a certain disease present in their families.
1 @COPYRIGHT 2025/2026 ALLRIGHTS RESERVED.
, Preimplantation Genetic Diagnosis - ANS Used following in vitro fertilization. Babies are
tested for genetic defects and only healthy babies are inserted into the mother.
Amniocentesis - ANS Done during the second trimester of pregnancy. Takes a sample of the
amniotic fluid for genetic testing (requires use of an ultrasound)
Chorionic Villi Sampling - ANS Done during the first trimester of pregnancy. It cannot detect
neural tube defects. Takes a sample of chorionic villi on placenta wall for genetic testing
(requires use of an ultrasound)
Ultrasound - ANS Takes video of baby in womb, can determine fetus' age and sex, as well as
physical defects. It is also used to see the heartbeat and diagnose a pregnancy.
Newborn Screening - ANS Newborn babies are tested for a variety of genetic disorders and
defects. Tests vary from state to state.
Duchenne Muscular Distrophy - ANS Sex-linked recessive disorder, causes body to not make
protein dystrophin, causing muscle weakness.
Cystic Fibrosis - ANS Autosomal recessive, Causes problem in CFTR Protein, causing
mucus to clog lungs, persistent cough, and other lung problems.
Huntington's Disease - ANS Autosomal dominant, doesn't show symptoms until later
in life. Makes defective protein known as Huntington. It is a degenerative brain disease
characterized by abnormal movements and a severe decline in thinking and reasoning skills.
Down Syndrome - ANS Caused by a problem after/during conception (missing whole/partial
chromosome 21). Characterized by small stature, physical defects, and mental retardation.
2 @COPYRIGHT 2025/2026 ALLRIGHTS RESERVED.
