Sheema Khan, Sarfraz Ahmad, Yaseen Khan.
Karyotypic assessment in patients of Turner`s syndrome.
Ann Pak Inst Med Sci Jan ;2(4):269-71.

Background: The chromosomal lesions in various cytogenetic disorders including Turner`s syndrome are least studied in our setup. Objective: To describe the cytogenetic pattern in patients with Turner`s syndrome. Patients and Methods: In this observational study conducted from 1991 to 2001, fifty patients with clinical features consistent with Turner`s syndrome were enrolled from different hospitals of Peshawar. These patients were subjected to karyotypic assessment at NIH Islamabad, Results: Out of fifty patients with short stature, webbed neck, shield chest, and mental retardation subjected to karyotypic analysis, two had XO-karyotype, three had Xiso-x, three had Xx -, eighteen had XX, twelve had XO/XX mosaicism, one had X0/Xiso-x mosaicism, five had XO/Xx -, three had XO/XYY and three had XO/XX/XXX. Conclusion: Turner`s syndrome patients have only one X- chromosome (XO). Chromosomal analysis in such patients is important before embarking on genetic counseling.

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