Diagnosis of genetic defects by chromosomal analysis

ABSTRACT

Of 901 karyotypes performed over a period of 4 years, genetic anomalies were detected in 162 cases. Down's syndrome [trisomy 21] was the most common [68.6%] genetic disorder followed by Turner's syndrome, Philadelphia chromosome, Klinefelter's syndrome, Edward's syndrome [trisomy 18] and Patau's syndrome [trisomy 13]. All the three trisomies were detected very early in life. Mean age at the time of diagnosis for Turner's syndrome was 13.3 years, allowing a timely hormone replacement therapy to improve secondary sexual characters. Patients with Klinefelter's syndrome were diagnosed late [mean age 23.6 years], which greatly reduced their chances for an effective therapy to improve the clinical and social outcome: