1.

Aneuploidy of chromosomes in human beings results in certain disorders. Draw out the possibilities of the karyotype in common disorders of this kind in human beings and its consequences in individuals.

Answer»

Down’s syndrome, Turner’s syndrome, Klinefelter’s syndrome are common examples of Aneuploidy of chromosomes in human beings.

  • Down’s syndrome results in the gain of extra copy of chromosome 21- trisomy.
  • Turner’s syndrome results due to loss of an X chromosome in human females- X0 monosomy. 
  • Klinefelter’s Syndrome is caused due to the presence of an additional copy of X-chromosome resulting into XXY condition.

Down’s Syndrome:

The affected individual is

  • short statured with small round head
  • furrowed tongue and partially open mouth
  • Palm is broad with characteristic palm crease
  • Physical, psychomotor and mental development is retarded.

Klinefelter’s Syndrome: The affected individual is

  • a male with development of breast, i.e., Gynecomastia
  • Such individuals are sterile.

Turner’s Syndrome: The affected individual shows following characters-

  • Females are sterile as ovaries are rudimentary.
  • lack of other secondary sexual characters.


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