Genetics in paediatric liver disease.

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%.3 Hence, prenatal diagnosis is necessary when familial, maternal or foetal conditions, may result in malformations, chromosomal abnormality or genetic disorders.