ABSTRACT
Introduction: Klinefelter Syndrome is one of most common sex chromosomal abnormality in males with incidenceof 1 in 600 live births. Fluorescence in situ hybridization (FISH) is a powerful molecular cytogenetic techniquewhich allows rapid detection of aneuploidies on interphase cells and metaphase spreads along with conventionalGTG banding technique.Aims and objectives: To evaluate application of karyotyping and FISH as important diagnostic tool in diagnosisKlinefelter Syndrome.Materials and Methods: A retrospective study was conducted on 44 patients who were referred for karyotypingand counselling with suspected Klinefelter Syndrome and hypogonadism to Division of Human Genetics,Department of Anatomy, St. John’s Medical College, Bangalore from January 2014 to October 2017. Chromosomalpreparations were done using the peripheral lymphocyte culture method followed by GTG banding technique,automated photography and karyotyping.FISH was performed with dual colour X/Y probes once abnormality was detected using GTG banding technique.Results: Out of 44 patients, 9 had typical karyotype of Klinefelter syndrome (47,XXY) and Four had variants ofKlinefelter syndromeConclusion: We can conclude that cytogenetic analysis forms important investigation in diagnosis , treatmentand fertility status in patients with Klinefelter syndrome.
ABSTRACT
Introduction: Radial head and neck fractures are one of the commonly encountered traumatic injuries. Commonlyproposed management includes radial head prosthesis implant or open reduction and internal fixation dependingon type of injury. Radial head measurements are very valuable in reconstruction of radial head. Appropriateanatomy of radial head will help in preventing postoperative stiffness and enable good rehabilitation.Aims and objectives: To estimate and compare radial head parameters of proximal end of right and left radii.Materials and Methods: Radial head measurements -Height of radial head in medial (MH) and lateral (LH) side,Antero posterior diameter (APD) and transverse diameters (TD) of radial head, Thickness of ventral (TVC), lateral(TLC) and dorsal (TDC) curves and depth of articular facet (D) were measured with the help of digital caliper.Statistical analysis was done using SPSS software. Difference in sides was measured using independent sampleT test (p value < 0.05 considered significant).Results: Mean values of Radial head measurements were APD:19.81mm, TD:18.925mm, MH:9.795mm,LH:7.735mm,TVC:5.05,TDC:3.695,TLC:3.64,D:1.735.There was difference in values of TLC between right and leftsides.Conclusion: Mean values of radial head measurements were comparable with previous studies. Side differenceshould be considered while implanting prosthesis on affected side.