Mention any two autosomal genetic disorders with their symptoms.

Explanation

I. Down.s syndrome : It is an autosomal abnormality first discovered by Langdon Down in 1866. The karyotype of affected person shows 47 chromosomes instead of 46. It is due to the presence of an extra autosome, which is found along with 21 pair of autosomes ie, the chromosome 21 is represented by three copies. So this condition is called 21 trisomy. The genetic make-up of the person is `45 A + XX or 45 A + XY `
ii. Edward.s syndrome: It is due to the autosomal trisomy of chromosome 18. The babies born with this syndrome have several skeletal defects, a short deformed sternum, cardiac problems, abnormal kidney etc. The incidence of this syndrome is about 1 per 15,000 births. The maternal age is one of the factors that influences its incidence.