[Cytogenetic analysis of 243 turner syndrome patient]

ABSTRACT

Turner Syndrome is one of the most frequent cytogenetic disorders in human and its incidence is estimated as 1 in every 2500 female live-birth. The Syndrome is caused by monosomy X or loss of some X chromosome material in at least one cell line. In this article, we report the results of cytogenetic study of 243 patients with Turner syndrome, referred to Kariminejad-Najmabadi Pathology and Genetics Center [Tehran, Iran]. The mean age of patients at diagnosis was 12.1 years and the median was 13. Most of the patients were referred to us due to short stature and/or growth failure [116 cases, 41.7%], primary amenorrhea [90 cases, 37.0%], congenital lymphedema [1 8 cases, 7.4%] and secondary amenorrhea [17 cases, 7.0%]. Karyotypes were carried out, using peripheral lymphocytes and monocytes and conventional giemsa banding method [GTO technique]. The results showed that 45,X was the most frequent pattern [111 cases, 45.7%], followed by 45,X/46,XX [33 cases, 13.6%], 45,X/46,X,isoXq [25 cases, 10.3%], and 46,X,isoXq [23 cases, 9.5%]. Twelve cases [4.9%] had one 46,XY cell line, without external genital ambiguity. We conclude that complete X monosomy is the most common pattern in peripheral blood karyotypes, but other molecular techniques such as polymerase chain reaction [PCR] and Fluorescent in situ hybridization [FISH] are necessary for more accurate results: