Chromosome karyotype analysis of 62 patients with Turner syndrome

Objective To analyze the cytogenetic features and distribution of Turner syndrome and the origins of complex karyotype. Methods Peripheral blood lymphocyte culture and karyotyping were performed in 62 patients with Turner syndrome in obstetric and gynecologic department or prediatrics department in Chinese PLA General Hospital from 2010 to 2015, and fluorescence in situ hybridization and chromosomal microarray analysis (CMA) were carried out in some cases. Results Twelve different types of karyotype were detected in 62 patients with Turner syndrome (age ranging from 5-25 years), including a case with complex marker chromosome mosaicism, which was confirmed by fluorescence in situ hybridization detection as part absence of Y chromosome or pseudodicentric Y chromosome; a case of ring chromosome mosaicism, which originated from Xp11q28 confirmed by CMA Conclusion Turner syndrome karyotypes are complex and diverse with XO and i (Xq) as most common. On the base of conventional G-banding karyotype, fluorescence in situ hybridization and gene chip technology can be used to identify complex chromosomal abnormalities, which has significant impact on the diagnosis and subsequent treatment of this disease.