Human Genetic Variations and Abnormalities Quiz

Explore human genetic variations & abnormalities with our quiz. Identify chromosomal disorders, inheritance patterns & genetic terms. Test now!

#1

Which of the following genetic disorders is caused by the presence of an extra chromosome 21?

Turner syndrome
Down syndrome
Klinefelter syndrome
Cystic fibrosis
1 answered
#2

What is the term for a sudden, non-inherited change in the DNA sequence?

Mutation
Allele
Heredity
Genotype
1 answered
#3

In humans, what is the approximate number of chromosomes in a diploid cell?

44
46
48
50
1 answered
#4

What is the term for the specific location of a gene on a chromosome?

Genotype
Phenotype
Allele
Locus
1 answered
#5

Which of the following is a genetic disorder characterized by the inability to properly metabolize the amino acid tyrosine?

Phenylketonuria (PKU)
Cystic fibrosis
Sickle cell anemia
Huntington's disease
1 answered
#6

In genetics, what term refers to the observable characteristics or traits of an organism?

Genotype
Phenotype
Haplotype
Allele
1 answered
#7

Which of the following is a sex-linked genetic disorder?

Hemophilia
Cystic fibrosis
Sickle cell anemia
Huntington's disease
1 answered
#8

What is the name of the genetic disorder characterized by an inability to break down phenylalanine, leading to intellectual disabilities if untreated?

Cystic fibrosis
Huntington's disease
Phenylketonuria (PKU)
Tay-Sachs disease
1 answered
#9

What is the term for the inheritance pattern in which both alleles of a gene are expressed in the phenotype?

Codominance
Incomplete dominance
Polygenic inheritance
Epistasis
1 answered
#10

Which of the following genetic disorders is caused by a mutation in the CFTR gene resulting in abnormal chloride ion transport?

Cystic fibrosis
Hemophilia
Phenylketonuria (PKU)
Sickle cell anemia
1 answered
#11

Which of the following genetic disorders is characterized by progressive degeneration of nerve cells in the brain?

Cystic fibrosis
Huntington's disease
Down syndrome
Sickle cell anemia
1 answered
#12

Which of the following is a characteristic of a recessive genetic disorder?

Typically appears in every generation
Requires only one copy of the mutant allele to express the phenotype
Affected individuals have unaffected parents
Most commonly observed in males
1 answered
#13

Which of the following is an example of a chromosomal abnormality?

Sickle cell anemia
Huntington's disease
Down syndrome
Cystic fibrosis
1 answered
#14

What is the term for the phenomenon in which individuals with different genotypes display the same phenotype?

Pleiotropy
Penetrance
Phenotypic plasticity
Genetic heterogeneity
1 answered

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