Mention any two autosomal genetic disorders with their symptoms.

Solution

1. Down’s syndrome: It is a case of autosomal aneuploidy which arises due to gain of a copy of 21st chromosome. Symptoms in Down's Syndrome is short statured with small round head, furrowed tongue and partially open mouth. Palm is broad with characteristic palm creases. Physical, psychomotor and mental development is retarded.

2. Phenylketonuria: It is an autosomal recessive disorder characterised by absence of the enzyme which converts phenylalanine into tyrosine . The person shows mental retardation because of the accumulation of phenylalanine and converted into phenylpyruvic acid and other derivatives which are passed out in urine. Kidney also shows poor absorption.

Some More Questions From Principles of Inheritance and Variation Chapter

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Principles Of Inheritance And Variation

Mention any two autosomal genetic disorders with their symptoms.

Some More Questions From Principles of Inheritance and Variation Chapter

Write the genotypes of man with blood group A.

What is Mendel’s monohybrid phenotypic ratio ?

Write down Mendel’s dihybrid Phenotypic ratio

Who were the rediscoverers of Mendelism ?

What are the real determinants of what an organism will become ?

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What do the symbols square and circle in a pedigree chart indicate ?

Define heterogamy. Give an example.

How many chromosomes are found in human cells ?

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