Karyotyping & Aneuploidy Mock Exam

A

What is the alternative name for the Karyotype test?

A) Chromosome analysis

B) Amniocentesis

C) Mendelian Genetics

D) Cell-free fetal DNA testing

A

A karyotype is a laboratory test used to examine the number, size, and shape of which cellular structures?

A) Chromosomes

B) Proteins

C) Genes

D) Cell membranes

C

What is the term for the image showing the arranged and photographed chromosomes from a Karyotyping test?

A) Karyogram

B) Punnett Square

C) Karyotype

D) Microarray

B

What are the non-sex chromosomes referred to as?

A) Allosomes

B) Autosomes

C) Homologues

D) Chromatids

C

How many total chromosomes are present in a normal human somatic (body) cell?

A) 23

B) 44

C) 46

D) 47

D

What is the sex chromosome complement for a normal human female?

A) XY

B) XXY

C) X

D) XX

B

Which component contains thousands of genes that carry genetic information?

A) Proteins

B) Chromosomes

C) Lipids

D) Ribosomes

C

Which procedure involves collecting a sample of cells from the fluid surrounding a developing baby in the womb?

A) Venipuncture

B) Bone marrow biopsy

C) Amniocentesis

D) Chorionic-villus sampling (CVS)

C

Which supplementary test for karyotyping detects very small genetic changes within chromosomes that a standard karyotype might miss?

A) FISH

B) Amniocentesis

C) Microarray

D) Quadruple Test

B

What does FISH stand for, as an additional test often done with karyotyping?

A) Follicle-stimulating in situ hybridization

B) Fluorescent in situ hybridization

C) Fetal immunological serum homology

D) Functional immunoscanning holography

D

What is the chromosomal abnormality where a cell has an extra or missing chromosome?

A) Diploidy

B) Polyploidy

C) Euploidy

D) Aneuploidy

D

What term describes a cell with a total of 47 chromosomes (having an extra chromosome)?

A) Monosomy

B) Pentasomy

C) Tetrasomy

D) Trisomy

A

What term describes a cell with a total of 45 chromosomes (having a missing chromosome)?

A) Monosomy

B) Trisomy

C) Tetrasomy

D) Pentasomy

C

Having four copies of a chromosome is known as what?

A) Trisomy

B) Monosomy

C) Tetrasomy

D) Pentasomy

B

What is the scientific name for Down Syndrome?

A) Trisomy 13

B) Trisomy 21

C) Trisomy 18

D) Turner Syndrome

B

Edwards Syndrome is scientifically known as what?

A) Trisomy 13

B) Trisomy 18

C) Trisomy 21

D) Klinefelter Syndrome

A

What is the scientific name for Patau Syndrome?

A) Trisomy 13

B) Trisomy 18

C) Trisomy 21

D) Turner Syndrome

D

Which sex chromosome aneuploidy results in a 45,X karyotype?

A) Klinefelter Syndrome

B) Edwards Syndrome

C) Down Syndrome

D) Turner Syndrome

A

Which sex chromosome aneuploidy results in an extra X chromosome in males (47,XXY)?

A) Klinefelter Syndrome

B) Edwards Syndrome

C) Patau Syndrome

D) Turner Syndrome

C

Which of the following is an example of an autosomal trisomy compatible with life?

A) Turner Syndrome

B) Klinefelter Syndrome

C) Trisomy 18

D) Mosaicism

A

What is the term for the error that occurs when chromosomes fail to separate properly during cell division, causing most aneuploidies?

A) Nondisjunction

B) Inversion

C) Translocation

D) Duplication

A

Nondisjunction most often occurs during the formation of which types of cells?

A) Egg and sperm cells (meiosis)

B) Muscle cells

C) Somatic (body) cells

D) Skin cells (mitosis)

B

If nondisjunction occurs in Meiosis I, what is the resulting chromosomal state in the gametes?

A) One normal cell and three abnormal cells

B) Two cells with an extra chromosome and two with a missing one

C) All four cells are normal

D) One cell with an extra, one missing, and two normal cells

D

If nondisjunction occurs in Meiosis II, what is the resulting chromosomal state in the gametes?

A) All four cells are abnormal

B) All four cells are normal

C) Two cells with an extra chromosome and two with a missing one

D) One cell with an extra, one with a missing chromosome, and two normal cells

B

Most cases of aneuploidy occur during which process, and the risk increases with the mother's age?

A) Paternal mitosis

B) Maternal meiosis

C) Paternal meiosis

D) Mitosis after fertilization

C

What rare cause of aneuploidy involves two acrocentric chromosomes breaking and their long arms fusing into a single chromosome?

A) Mosaicism

B) Nondisjunction

C) Robertsonian Translocation

D) Deletion

C

What is the term for the condition where aneuploidy occurs during mitosis (after fertilization), creating a mix of normal and abnormal cells in the same individual?

A) Trisomy

B) Monosomy

C) Mosaicism

D) Translocation

B

Cells carrying a Robertsonian Translocation can lead to which condition due to extra chromosome 21 material?

A) Turner Syndrome

B) Down Syndrome

C) Klinefelter Syndrome

D) Edwards Syndrome

C

Most cases of autosomal aneuploidy are not compatible with life and result in what outcome?

A) Mild symptoms

B) Intellectual disability

C) Spontaneous abortion (miscarriage)

D) Milder effects due to mosaicism

C

Which condition is the most common chromosomal disorder in live births (about 1 in every 700 infants)?

A) Edwards Syndrome

B) Patau Syndrome

C) Down Syndrome

D) Turner Syndrome

A

Which of the following is a physical feature associated with Down Syndrome (Trisomy 21)?

A) Simian crease (single crease across the palm)

B) Small testes

C) Rocker bottom feet

D) Webbed neck

A

Which physical feature is characteristic of Edwards Syndrome (Trisomy 18)?

A) Clenched fists with overlapping fingers

B) Upward-slanting eyes

C) Webbed neck

D) Reduced facial and body hair

B

What severe physical feature is associated with Patau Syndrome (Trisomy 13)?

A) Enlarged breast tissue

B) Extra fingers or toes (polydactyly)

C) Rocker bottom feet

D) Flat facial profile

C

Which syndrome is characterized by tall stature with long legs, small testes, and gynecomastia (enlarged breast tissue) in males?

A) Turner Syndrome

B) Edwards Syndrome

C) Klinefelter Syndrome

D) Patau Syndrome

D

Which syndrome in females is characterized by short stature, a webbed neck, and underdeveloped ovaries?

A) Trisomy 21

B) Trisomy 18

C) Klinefelter Syndrome

D) Turner Syndrome

B

Sex chromosome aneuploidies are usually less severe than autosomal trisomies because which chromosomes carry fewer essential genes?

A) Chromosome 21

B) X and Y chromosomes

C) Chromosome 13

D) All autosomes

B

Which invasive prenatal diagnostic test for aneuploidy is performed between 9-11 weeks of pregnancy?

A) Amniocentesis

B) Chorionic-villus sampling (CVS)

C) Quadruple Test

D) Cell-free fetal DNA testing

C

Which invasive prenatal diagnostic test for aneuploidy is performed between 15-20 weeks of pregnancy?

A) Chorionic-villus sampling (CVS)

B) Non-invasive Alternative

C) Amniocentesis

D) First Trimester screening

C

What non-invasive alternative prenatal screening test can be done as early as 10 weeks and uses the mother's blood?

A) Karyotype analysis

B) Nuchal translucency scan

C) Cell-free fetal DNA testing

D) Quadruple Test

B

The Second Trimester (Quadruple Test) measures four substances. Which of the following is not one of them?

A) AFP

B) PAPP-A

C) Unconjugated estriol (uE3)

D) Inhibin A

D

Which tissue sample can be obtained through a bone marrow biopsy for Karyotyping?

A) Blood

B) Amniotic fluid

C) Placental tissue

D) Bone marrow

D

Which tissue sample for Karyotyping is obtained from the organ that nourishes the baby during pregnancy?

A) Bone marrow

B) Amniotic fluid

C) Blood

D) Placental tissue

C

Which type of sample collection may cause a brief sting or pinch when the needle is inserted?

A) Amniocentesis

B) Bone marrow biopsy

C) Blood draw (venipuncture)

D) Chorionic-villus sampling

D

Which procedure is noted to cause some pain or discomfort at the site where the needle is inserted into the bone?

A) Blood draw

B) Amniocentesis

C) Karyotype analysis

D) Bone marrow biopsy

B

Which of the following is a common reason for performing a Karyotype test?

A) To check for infectious diseases

B) To evaluate a couple with a history of miscarriages

C) To measure blood glucose levels

D) To detect the presence of PAPP-A

C

Which specific chromosomal abnormality can Karyotyping help detect in about 85% of people with chronic myelogenous leukemia (CML)?

A) Down Syndrome

B) Turner Syndrome

C) The Philadelphia chromosome

D) Trisomy 18

B

Abnormal Karyotype results may be due to a genetic syndrome or condition like what?

A) CML

B) Klinefelter Syndrome

C) AFP 

D) Robertsonian Translocation

C

What is the typical management focus for Edwards Syndrome and Patau Syndrome?

A) Curative gene therapy

B) Life-long hormone therapy

C) Supportive care, focusing on life-threatening problems

D) Intensive occupational therapy

B

The management for Down Syndrome includes which of the following?

A) Surgical cure

B) Occupational, speech, and physical therapy

C) Cell-free fetal DNA testing

D) Chromosome analysis

C

What does a normal karyotype show?

A) A total of 45 chromosomes

B) An extra X chromosome

C) The correct number and arrangement of chromosomes

D) Evidence of nondisjunction