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WorksheetsGenetic Disorders
Total questions: 20
Worksheet time: 40mins
The condition where someone has either too many or too few chromosomes is known as...
trisomy
monosomy
aneuploidy
Down's syndrome
Monosomy is when...
there is only one copy of what is normally a chromosome pair.
there is an excess of DNA within a cell, resulting in birth defects.
there is an extra copy of a chromosome in what is normally just a pair (2) of chromosomes.
one of the copies of a chromosome is non-functioning.
Trisomy is when...
there is only one copy of what is normally a chromosome pair.
there is an excess of DNA within a cell, resulting in birth defects.
there is an extra copy of a chromosome in what is normally just a pair (2) of chromosomes.
one of the copies of a chromosome is non-functioning.
A common example of trisomy that is when there is an extra copy of chromosome 21. This condition is known as...
Lou Gehrig's Disease.
Alzheimer's Disease.
Sickle Cell Anemia.
Down's Syndrome.
The first 22 pairs of chromosomes in the human genome are often referred to as...
autosomal chromosomes.
zygotic chromosomes.
sex chromosomes.
unbalanced chromosomes.
The 23rd pair of chromosomes in the human genome are often referred to as...
autosomal chromosomes.
zygotic chromosomes.
sex chromosomes.
unbalanced chromosomes.
The condition where pieces of chromosomes are broken off during Meiosis 1 and put into different locations is called...
autosomal recession.
chromosome rearrangement.
telomere rearrangement and lengthening.
single gene swapping
What is a chromosome inversion?
A condition where a piece of a chromosome breaks away and is reinserted into the DNA "upside down".
A condition where chromosomes are ordered in an inverted fasion from chromosome 23 to chromosome 1.
A condition where a chromosome is read back to front by RNA to result in an improper protein (or no protein at all).
A condition where two chromosomes break apart and swap places.
What is a chromosome translocation?
a condition where a piece of a chromosome breaks away and is reinserted into the DNA "upside down".
A condition where chromosomes are ordered in an inverted fasion from chromosome 23 to chromosome 1.
a condition where a chromosome is read back to front by RNA to result in an improper protein (or no protein at all).
a condition where two chromosomes break apart and swap places.
What happens in an unbalanced chromosome insertion?
Chromosomes break apart and swap places with each other.
Part of a chromosome breaks away and does NOT recombine with the DNA. The genetic information is lost.
Part of a chromosome breaks away, is copied and then re-inserted into the chromosome, resulting in extra genetic material on that chromosome.
Chromosomes are entirely copied and re-inserted into the DNA, resulting in a doubling of that particular chromosome.
When a condition is caused by the presence of just one copy of a gene being present in the first 22 chromosomes it is referred to as...
autosomal recessive.
sex-linked recessive.
autosomal dominant.
sex-linked dominant.
When a disorder is caused by the presence of just one copy of gene being present on the 23rd chromosome is referred to as...
autosomal recessive.
sex-linked recessive.
autosomal dominant.
sex-linked dominant.
When a disorder results ONLY when there are two copies of a particular gene found within the first 22 genes in the human genome, it is referred to as being...
autosomal recessive.
sex-linked recessive.
autosomal dominant.
sex-linked dominant.
A genetic disorder that is caused by the change in the genetic sequence within a single gene is called a...
multifactorial gene disorder.
gene swapping disorder.
gene missense disorder.
single gene disorder.
________________________ is a single gene disorder caused by a deletion of 26 - 28 genes on chromosome 7 and is characterized by mild intellectual disability and having outgoing personalities.
Down's syndrome
Williams syndrome
Cri du chat syndrome
Tay Sachs disease
Because some disorders are caused by the interaction of many genes and/or the interaction of environmental factors, they are collectively referred to as...
single gene disorders.
environmental impact disorders.
multifactorial disorders.
multivariable disorders.
A version of this multifactorial genetic disorder has a mutation to chromosome 19 where the APO gene has a mutation. This disease is...
Alzheimer's disease.
Huntington's disease.
Breast/ovarian cancer.
Hypothyroidism.
With treatment, colon cancer has a survival rate of 90%
True
False
Healthcare professions that specialize in helping families understand and providing support are called...
genetic research scientists.
neo-natal practicioners.
social workers.
genetic counselors.
A blood test given to mothers during pregnancy to test for neural tube disorders (spina bifida) and Down's syndrome is...
maternal serum afpha fetal protein (MSAFP).
thyroid stimulating hormone (TSH).
double contrast barium enema (DCBA).
hormone replacement therapy (HRT).
