1 in 3,000 live female births corresponding to approximately 1.5 million women worldwide per year. There is a wide variation of clinical features

seen in females with short stature, gonadal dysgenesis, neurocognitive disorder, lymphedema, and characteristic dysmorphic features. The aim of

this study was to investigate cytogenetic and phenotypic profile of Turner syndrome in a group of referred patients with suspected genetic disorders.

Methods: This observational study was carried out at the Cytogenetic Laboratory of the Department of Immunology BIRDEM General Hospital

for a period of seventeen years from 2000 to 2016. A total of 9,216 patients suspected for different chromosomal abnormality (e.g. numerical

chromosomal disorders, primary amenorrhoea, ambiguous genitalia etc.) were included in this study referred by physicians of various discipline

from different areas of Bangladesh. From the patients, referred for cytogenetic study, detailed family history and physical findings were noted.

Complete genetic examination and pedigree construction was done to exclude non–chromosomal causes of anomaly. For cytogenetic analysis,

peripheral lymphocyte culture by the standard method using the G–banding technique was employed.

Results: In these study 446 (4.83%) female patients of referred patients was diagnosed as TS in cytogenetic study and most of them (36.3%) were

diagnosed in their adolescent period between 11–15 years of age group. Classical cytogenetic form of TS – 45, X (56.8%) were most common

followed by other mosaics. To see association of age and different phenotypic feature (neckwebbing, carrying angle, short stature, developmental

milestone) with various cytogenetic form of TS we did Chi square with Fisher‘s Exact Test and we found all variables had significant association. To

find out the prediction ability of variables multiple linear regression was done and this model can predict the variation up to 11.4% as well as

statistically significant (p< 0.05). Among the variables respondent‘s age was the strongest predictor (p=0.000, CI: 0.071, 0.211) followed by neck

webbing (p=0.002, CI: 0.118, 0.518) and short stature (p=0.010, CI: 0.057, 0.414) while controlling the other variables.

Conclusion: TS diagnosis in early age before puberty is crucial from other related disorders and thereby helps in improving the quality of life by

providing appropriate and timely treatment. Therefore, we need to focus to improve our diagnostic capacity for TS for proper intervention.