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Article
Diagnosis of genetic defects by chromosomal analysis
Journal of Pakistan Medical Association
  • Farooq Ghani, Aga Khan University
  • Siddiqua Maniac, Aga Khan University
  • Zahida Khilji, Aga Khan University
  • Mohammad Azim, Aga Khan University
  • Mohammad Khurshid, Aga Khan University
Publication Date
1-1-1995
Document Type
Article
Disciplines
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 (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 improve the clinical and social outcome (JPMA 45:295,1995).

Citation Information
Farooq Ghani, Siddiqua Maniac, Zahida Khilji, Mohammad Azim, et al.. "Diagnosis of genetic defects by chromosomal analysis" Journal of Pakistan Medical Association Vol. 45 (1995) p. 295 - 298
Available at: http://works.bepress.com/mohammad_khurshid/30/