Pathology Commons^™

Diagnosis Of Genetic Defects By Chromosomal Analysis, Farooq Ghani, Siddiqua Maniac, Zahida Khilji, Mohammad Azim, Mohammad Khurshid

Department of Pathology and Laboratory Medicine

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 (168.8%) 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 of an effective therapy to …