A Study on the Chromosomal Syndromes and Genetic Disease

Exploring the Impact of Chromosome Abnormalities on Genetic Disease

Abstract

Withthe discovery in 1956 that the correct chromosome number in humans is 46, thenew era of clinical cytogenetics began its rapid growth. During the next fewyears, several major chromosomal syndromes with altered numbers of chromosomeswere reported, i.e. Down syndrome (trisomy 21), Turner syndrome (45,X) andKlinefelter syndrome (47,XXY). Since then it has been well established thatchromosome abnormalities contribute significantly to genetic disease resultingin reproductive loss, infertility, stillbirths, congenital anomalies, abnormalsexual development, mental retardation and pathogenesis of malignancy.