Gulfaraz Khan, Jamil Ahmed Ansari, Muhammad Salman, Moazzam Abbas Ranjha, Faheem Tahir.
A six-year analysis report at the cytogenetics department of National Institute of Health Islamabad, Pakistan.
Pak J Med Res Jan ;57(4):165-70.

Background: The change in the number and structure of chromosomes result in chromosomal abnormalities, which can lead to serious medical problems in human beings. These problems may include delayed milestones in infants, presence of ambiguous genitalia, mental health problems and occurrence of repeated miscarriages in couples. Objective: The study was carried out to see the frequencies of various chromosomal abnormalities in patients belonging to Rawalpindi and Islamabad cities, who were advised for chromosomal analysis. Study design, settings and duration: A retrospective study was carried out at Cytogenetics Department of Public Health Laboratories Division in the National Institute of Health, Islamabad during January 2011 to December 2016. Patients and Methods: A total of 363 patients, whose ages were between newborn to 38 years, were referred to Cytogenetics Department of Public Health Laboratories Division in the National Institute of Health, Islamabad during January 2011 to December 2016 (six years) with complaints of Down syndrome, Turner?s syndrome, ambiguous genitalia and primary/ secondary amenorrhea. Karyotyping i.e. analysis of chromosomes of these patients was performed by lymphocyte culture technique. Data was collected on a pre-designed proforma by interviewing the case or his parents (if case was infant) and was entered in excel and analyzed with Epi-Info. Results: Of the total 115 (31.6%) were males and 189 (52.2%) were females. Chromosomal abnormalities were found in 130 cases (35.8%) out of total 363 cases included in this study. Out of these abnormalities, Down?s syndrome (46.6%) was the highest chromosomal abnormality followed by ambiguous genitalia (24.5%) and Turner syndrome (2.1%). However, among the total respondents (n=363) 49 females were presented with the complaint of primary Amenorrhoea and 19 with the complaint of Bad Obstetrics History (BOH) for chromosomal analysis. However, all 68 females had normal karyotypes. Conclusion: From the results obtained in the above mentioned study, it transpires that chromosomal analysis plays an important role in investigating the chromosomal disorders in suspected patients and also helps physicians to confirm proper diagnosis of ailment and provide necessary counseling to the patients as well as their parents.

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