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Q.

46, t (9 : 22) karyotype indicates

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a

The production of abnormal enzyme tyrosine kinase

b

Psychomotor and mental development is retrarded in affected persons

c

Cardiac abnormalities in affected persons

d

The affected children show cat like cry

answer is B.

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Detailed Solution

46, t (9 : 22) karyotype indicates production of an abnormal enzyme called a tyrosine kinase, this enzyme causes uncontrolled cell cycle progression leading to the cancer called CML.

In CML, a piece of the chromosome 9 and a piece of the chromosome 22 break off and switch places (Exchange places) with each other (reciprocal translocation). This results in the formation of an abnormal short chromosome 22 and abnormal long chromosome 9.

The short 22nd chromosome is called Philadelphia chromosome.

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