Category: Image Based Question

Which among the following is the most probable diagnosis for the karyotype shown below?

A. Down’s syndrome.

B. Klinefelter’s syndrome.

C. Turner syndrome.

D. None of the above.

Correct Answer » B Explanation

Ans: B. Klinefelter’s syndrome.

The karyotype shown above represents Klinefelter’s syndrome because of trisomy at sex chromosome – XXY as represented by a red box in the picture below.

Klinefelter syndrome  also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males.

• They have 47 number of chromosomes instead of 46.
• Occurs in 1:500 to 1:1000 live male birth
• The primary feature is sterility

By looking at the karyotype shown below, which among the following is the most probable diagnosis?

A. Down syndrome.

B. Klinefelters syndrome.

C. Turner syndrome.

D. None of the above.

Correct Answer » A Explanation

Ans: A. Down Syndrome

The karyotype shown in the picture above represents Down syndrome because of the presence of numerical anomalies of the chromosomes i.e aneuploidy due to trisomy of 21st chromosome as marked by a red box in the picture above.

• Down syndrome  also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
• It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability

The picture “shown below” represents which among the following?

A. Idiogram.

B. Karyotyping.

C. Both of the above.

D. None of the above.

Correct Answer » A Explanation

Ans: A. Idiotype.

The picture shown above represents an Idiogram.

A diagram or graphic representation of a karyotype, showing the number, relative sizes, and morphologicalcharacteristics of the chromosomes of a species, individual, or cell is called an Idiogram.

The photomicrograph shown below is most commonly used to prepare which among the following ?

A. Karyotype.

B. Idiogram.

C. Both of the above.

D. None of the above.

Correct Answer » A Explanation

Ans: A. Karyotype.

The photomicrograph shown in the image represents a metaphase chromosome.

Karyotype is prepared from the photomicrographs of a metaphase chromosome.

A metaphase chromosome is selected because at this stage the chromosome will have maximum condensation or thickness and will be visible through the ordinary laboratory microscope.

The blood smear of a patient represent the following as shown in the picture below. Which among the following best describe the state shown below?

A. Agglutination of red cells.

B. Spurr cells.

C. Burr cells.

D. Rouleaux formation.

Correct Answer » A Explanation

Ans: A. Agglutination of red cells.

• Red cell agglutination is the process whereby red cells clump together forming aggregates.
• This is seen in Waldenström’s macroglobulinemia, immune-mediated hemolytic anemia,cold agglutinin disease, Infection with Mycoplasma Pneumonia, cryoglobulinemia.
• The presence of antibodies (usually IgM) on the surface of red blood cells is responsible for the phenomenon of autoagglutination.
• The observation of red blood cell agglutination (also referred to as autoagglutination) must be distinguished from rouleaux formation which is a physiological phenomenon.
• Agglutinating red blood cells resemble grapelike clusters whereas red blood cells in rouleaux formation resemble a stack of coins.
• In order to clearly distinguish erythrocyte agglutination from rouleaux formation, a simple saline test can be performed.

The blood smear of a patient shows the following as marked by a black arrow in the picture below.Which among the following best describe the state below?

A. Rouleaux formation.

B. Agglutination of red cells.

C. Both of the above.

D. None of the above.

Correct Answer » A Explanation

Ans: A. Rouleaux formation:

• It describes an aggregation of erythrocytes that are aligned one upon the other, resembling stacks of coins.
• The flat surface of the discoid RBCs gives them a large surface area to make contact with and stick to each other; thus forming a rouleau.
• They occur when the plasma protein concentration is high, and because of them the ESR (erythrocyte sedimentation rate) is also increased.
• Acute-phase proteins, particularly fibrinogen, interact with sialic acid on the surface of RBCs to facilitate the formation of rouleaux.
• Conditions which cause rouleaux formation include infections, multiple myeloma, Waldenstrom’s macroglobulinemia, inflammatory and connective tissue disorders, and cancers.
• It also occurs in diabetes mellitus and is one of the causative factors for microvascular occlusion in diabetic retinopathy.
• The observation of  red blood cell agglutination (also referred to as autoagglutination) must be distinguished from  rouleaux formation .
• Agglutinating red blood cells resemble grapelike clusters whereas red blood cells in rouleaux formation resemble a stack of coins.
• In order to clearly distinguish erythrocyte agglutination from   rouleaux formation, a simple saline test can be performed.