CYTOGENETIC STUDY OF TURNER SYNDROME IN IRAN

Abstract

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.

Keywords

• Turner syndrome
• Chromosome anomaly