cytogenetic study of turner syndrome in iran

turner syndrome is one of the best known chromosome anomalies in human being, by an approximate incidence of 1/2500 female at birth. the cause is a chromosomal aberration, mainly with the karyotype 45, x. ninety six patients aged 6 to 26 years with short stature were studied for chromosomal anomalies. out of these 82 were phenotypically female and 14 phenotypically male. twenty seven showed abnormal karyotypes, 15 were pure turner with a chromosome complement of 45, x. seven showed mosaiscim of 45, x/46, xx and 5 showed 45, x/46, xy cell lines. most of the features of turner’s syndrome were manifested in the fifteen 45, x turners while the 45, x/46; xx did not show all the features due to the presence of a normal cell line. out of the mosaics 45, x/46, xy, four had female phenotypes with normal genitalia while one had a male phenoytype with poorly developed male genitalia.