Question

Name the kind of diseases/disorders that are likely to occur in humans if
    (i) mutation in the gene that codes for an enzyme phenyl alanine hydrolase occurs,
    (ii) there is an extra copy of chromosome 21,
    (iii) the karyotype is XXY.

Answer 1

(i) Phenylketonuria is the disorder that occur in humans due to the mutation in the gene (phenylalanine) that codes for an enzyme phenylalanine hydroxylase.

(ii) Down syndrome is the disorder that occur in humans if there is an extra copy of chromosome no. 21.

(iii) Klinefelter's syndrome is the disorder that occur in humans if the karyotype is XXY.