In this article we will discuss about the chromosomal aberrations and variation of chromosome number in human. Any anomaly in the normal structure of chromosome or any variation in the normal karyotype of human causes an abnormal development of human or resulting in zygotic loss, still births or infant death. The degree of the abnormalities in the human structure will [...]
In this article we will discuss about the genetics of thalassemia. There are two main types of thalassemia: α-thalassemia — resulting from a reduced rate of α-chain; β-thalassemia — resulting from a defective production of β-chains. More recently, family studies have revealed a heterogeneity of both α and β- thalassemia which is discussed in the Table 15.1. The β-thalassemias are [...]
In this article we will discuss about:- 1. Definition of Down's Syndrome 2. Physical and Physiological Features of Down's Syndrome 3. Chromosomal Findings 4. Incidence 5. Causes. Definition of Down's Syndrome: The first autosomal abnormality described in man by John Langdon Down (1966) was known as Down's syndrome, more commonly used as mongolism. In this case, there is simple trisomy [...]