S. Kalkanli; S. Simsek; M. Balkan; H. Akbas; H. Isi; D. Oral; A. Turkyılmaz; M. Fidanboy; E. Deveci; O. Baran; N. Kalkanli; M. N. Alp & T. Budak

Down syndrome is primarily caused by trisomy of chromosome 21. We reviewed cytogenetic studies performed on 1048 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbakir, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). For histologic examination to persons with Down syndrome and normal, buccal mucosa smear was prepared by rubbing. Down syndrome are disabled and control groups were compared statistically buccal epithelial cells and nuclei (p<0.05). Periphery of the nucleus in some patients with Down's syndrome, while the bud structures in the form of micronuclei was observed in the karyolytic cells.

KEY WORDS: Down syndrome; Buccal mucosa; Southeast Turkey; Chromosomal abnormalities; Genetic counseling.

KALKANLI, S.; SIMSEK, S.; BALKAN, M.; AKBAS, H.; ISI, H.; ORAL, D.; TURKYILMAZ, A.; FIDANBOY, M.; DEVECI, E.; BARAN, O.; KALKANLI, N.; ALP, M. N. & BUDAK, T. Genetics analysis with Down syndrome and histopathological examination of buccal epithelial cells. Int. J. Morphol., 31(2):668-671, 2013.