1. Human Genetic Disorders
Chapter 14 Review
Human Genetic Disorders

2. The person in this picture is a male female
This organized picture of an individual’s chromosomes is called a __________________
karyotype
The person in this picture is a
male female
Female
There are 2 X and no y chromosomes.

3. Name an X-linked genetic disorder.
The genetic disorder in which the person can’t make the protein needed to make their blood clot is called ______________________
hemophilia
Name an X-linked genetic disorder.
Hemophilia, colorblindness, Duchenne Muscular dystrophy

4. A person with trisomy-21 (three #21 chromosomes) has ____________
A person who has a copy of the gene for a recessive disorder but doesn’t show any signs of the sickness is called a _________________
carrier
A person with trisomy-21 (three #21 chromosomes) has ____________
Down syndrome

5. Males can NOT be carriers for autosomal recessive disorders.
Genetic disorder in which a person can NOT
breakdown phenylalanine and eating foods containing this amino acid causes them to become retarded.
Phenylketonuria (PKU)
TRUE or FALSE
Males can NOT be carriers for autosomal recessive disorders.
False. Males CAN carry AUTOSOMAL disorders, they just can’t be carriers for X linked disorders.

6. The cell that forms when an egg and a sperm
join together is called a _______________
zygote
TRUE or FALSE
GERM cell mutations can be passed on to
offspring.
TRUE : Germ cells are reproductive cells. Changes in the DNA of these cells is passed on to the offspring.

7. An autosomal trait is found on the X chromosome
Genetic disorder in which the DNA code for hemoglobin is changed. Red blood cells with the damaged hemoglobin protein, change into a sickle shape and clog up the blood vessels.
Sickle cell anemia
TRUE or FALSE
An autosomal trait is found on the X chromosome
FALSE Autosomes are the chromosomes that are NOT sex chromosomes.

8. A trait that is controlled by several genes
(like skin color or height) is called ______________
Polygenic
Give an example of an autosomal dominant
genetic disease.
Huntington’s ;
Achondroplasia (dwarfism)

9. Give an example of Y linked gene.
A trait in which there are three or more choices
for a single gene (like A, B, and O blood type) is a ____________ trait.
polygenic multiple allele
Multiple allele
Give an example of Y linked gene.
Hairy ears (pinna)

10. Dizygotic or fraternal twins have identical DNA
TRUE or FALSE
Dizygotic or fraternal twins have identical DNA
False They come from 2 different eggs and 2 different sperm
Eye color is a _____________ trait.
Polygenic Multiple allele sex linked
polygenic

11. ______________ mutations cause death often before birth.
A body cell is also called a ______________ cell.
SOMATIC
______________ mutations cause death often before birth.
LETHAL

12. A person with the Xy genotype would be
male female
male
A _________ cell mutation happens in sperm or egg cells.
GERM

13. Twins which don’t separate entirely and remain attached by some body part are called ______________
Conjoined
Which person shows the
genetic trait? A B A C

14. Twins that come from one sperm and egg are called _____________
Maternal or MONOZYGOTIC
Which person is a carrier for the trait? A B C C D

15. X-linked genes _______________
This picture shows a ___________________
Karyotype
Pedigree
Punnett square
pedigree
X-linked genes _______________
Only show up in females
Show up more frequently in males
can be heterozygous in males
only pass from mothers to daughters
Show up more frequently in males

16. Name the disease that individual’s who are
TRUE or FALSE
MONOZYGOTIC (or maternal) TWINS have identical DNA.
TRUE
Name the disease that individual’s who are
heterozygous for the sickle cell allele show
resistance to.
malaria

17. Cystic fibrosis is more common in ___________
Sickle cell anemia is more common in ____________________
Males females African Americans Caucasians
African Americans
Cystic fibrosis is more common in ___________
Males females African Americans Caucasians
Caucasians

18. A gene that is carried on the X chromosome
X-linked
A trait with 3 or more choices for a gene
(like A B and O blood type alleles)
Multiple allele trait

19. Sex linked genes are found on the X or y chromosome.
Twins with different DNA that come from 2 different egg and sperm are called
dizygotic or Fraternal
TRUE or FALSE
Sex linked genes are found on the X or y chromosome.
True; sex LINKED means they are on one of the sex chromosomes.

20. When homologous chromosomes don’t separate
Dark spot in the nucleus made when one of the X chromosomes in females is inactivated
BARR BODY
When homologous chromosomes don’t separate
during meiosis it is called _________________
nondisjunction

21. Which type of mutation can be passed along to offspring?
Somatic cell mutation Germ cell mutation
Germ cell mutation
Which of the following is NOT visible in a karyotype ?
Sex of baby
Missing or extra chromosomes a point mutation
Point mutations

22. Name 3 disorders that are:
Autosomal recessive X linked recessive
_______________ _______________
________________ _______________
Phenylketonuria (PKU)
Tay-Sach’s
Cystic fibrosis
Hemophilia
Colorblindness
Muscular dystrophy
Name 3 disorders that is caused by nondisjunction:
___________________
Down syndrome
Turner’s syndrome
Klinefelter’s syndrome

23. Name disorders that are:
Autosomal Dominant
________________
Huntington’s
Achondroplasia
Autosomal
Codominant
___________________
Sickle cell disease

24. Which parent determines the sex of the baby?
father
What is the difference between a germ cell mutation and a somatic cell mutation?
Somatic cells are body cells and mutations in these cells are NOT passed on to offspring.
Germ cells are reproductive cells. Mutations in these cells CAN be passed on to offspring.

25. Twins with identical DNA that come from the
same egg and sperm are called
Monozygotic or Maternal
Chromosomes that DON’T determine sex are called ____________________
autosomes

26. Other name for “Dwarfism”
Achondroplasia
TRUE or FALSE
Females can be carriers for X linked genes.
True; they have 2 X chromosomes. So they can have one normal gene and one mutant gene.

27. The cell that forms when an egg and a sperm
join together is called a _______________
zygote
TRUE or FALSE
Somatic cell mutations can be passed on to
offspring.
False; they are in body cells. They can make the cell unable to function; cause cancer; or kill the body cell BUT are NOT PASSED ON TO OFFSPRING.

28. Females can be carriers for X linked genes
TRUE or FALSE
Females can be carriers for X linked genes
TRUE
Why do X-linked recessive disorders show up
more in males than females?
Males only have one X. If they get the gene it will show.
Females have a 2nd X that can “hide” the disorder gene. They need 2 copies of the gene to show disorder. Males don’t have a “back up” X.

29. What disorder is it? Hemophilia Sickle cell anemia
Mutation in the blood clotting protein makes
person unable to stop bleeding after an injury _______________
Mutation in hemoglobin causes red blood
cells to change shape and ____________________
clog up blood vessels
Mutation causes mental retardation
if foods containing phenylalanine are eaten _____________________
Three #21 chromosomes are present
causing mental retardation _______________________
Mutation in ion channel protein causes thick mucous to clog up lungs and digestive organs _______________________
Hemophilia
Sickle cell anemia
Phenylketonuria (PKU)
Down syndrome
Cystic fibrosis

30. What disorder is it? Huntington’s disease (HD)
Gradual deterioration of the brain that appears during middle age resulting
in nursing home care and early death ____________________
Progressive weakening of muscle proteins resulting in inability to walk and eventually death _________________________
Inability to distinguish between the colors red and green _____________________
Only one X and no y chromosome ____________________
resulting in infertility
Huntington’s disease (HD)
Duchenne Muscular dystrophy
Colorblindness
Turner syndrome

31. What disorder is it? achondroplasia Conjoined twins
Twins that are born joined together ____________________
Males with an extra X chromosome ______________________ (XXY) karyotype; some female features; infertility
Lipids build up in brain causing blindness, retardation, & early death _________________________
Disorder in bone growth so torso __________________________
and head are normal size but arms and legs are short
Conjoined twins
Klinefelter syndrome
Tay-Sachs
achondroplasia

32. Dominant/recessive? Autosomal/X-linked/nondisjunction
Turner syndrome ____________________
Cystic fibrosis ____________________
Hemophilia _____________________
Colorblindness __________________
Phenylketonuria ___________________
Duchenne muscular dystrophy ________________
Autosomal recessive
X-linked recessive
X-linked recessive
Autosomal recessive
X-linked recessive

33. Dominant/recessive? Autosomal/X-linked/nondisjunction
Autosomal recessive
Phenylketonuria ____________________
Down syndrome ____________________
Sickle cell anemia _____________________
Klinefelter syndrome ____________________
Huntington’s disease ______________________
Tay-Sachs _________________
nondisjunction
Autosomal CODOMINANT
nondisjunction
Autosomal dominant
Autosomal recessive