Author/Authors :
Aziz, Sina Dow University of Health Sciences - Lyari General Hospital, Paediatric Unit IV, Pakistan
Abstract :
Genetics (genetic constitution of an individual, group, or class) is a branch of biology that deals with heredity, especially the mechanisms of hereditary transmission and the variation of inherited characteristics among similar or related organisms. Genetic professionals include medical geneticist, genetic counselor, laboratory geneticist and nurse geneticist. Clinical geneticist tries to identify the etiology, mode of inheritance and the risk that a similar disorder may occur in the affected childs’ siblings. Five different categories are required for classification of the patients disorder. Single gene mutations account for 6% of the children with congenital anomalies, chromosomal disorders 7.5%, multifactorial inheritance 20%, and disorders with unusual pattern of inheritance 2 to 3%, while teratogenically caused conditions are 6%. Hence, prenatal diagnosis is necessary when familial, maternal or foetal conditions, may result in malformations, chromosomal abnormality or genetic disorders.