Abnormalities of secondary sexual differentiation manifest in varying degrees depending upon the severity of the underlying cause. Primary amenorrhea in phenotypic females is caused by several different factors, including hormonal imbalance, nutritional deficiency and sex differentiation abnormalities. Androgen insensitivity syndrome (AIS) accounts for a large proportion of such cases in phenotypic females but genetically male individuals. Over the past 10 years, we have collected data related to androgen insensitivity from more than 150 cases. The research identified several important but neglected facts about this syndrome; including the identification of mutations in 39% of the cases and the establishment of the cause of pathogenesis in 60% of them. The most intriguing facts were uncovered in relation to late presentation of the AIS cases, little awareness among patients and family members, no consensus on the age of performing gonadectomy, and reluctance of the patients to undergo recommended surgery. These issues need immediate attention to improve healthcare and management of AIS cases. This article summarizes our observations about AIS with an aim to spread awareness among patients and clinicians.

Introduction: Deletion of critical regions on long arm of chromosome 7 is important in pathogenesis of acute myeloid leukemia (AML). These regions include 7q22 and 7q31 which carry certain tumor suppressor genes which if deleted can result in uncontrolled division of myeloid cells. Aims: To estimate prevalence of 7q deletion in patients with acute myeloid leukemia (AML). Materials and methods: Retrospective study was done on 25 bone marrow samples diagnosed with Acute myeloid leukemia referred to Division of Human Genetics St.John’s Medical college, Bangalore. Samples were subjected to standard protocol for karyotyping and FISH. Percentage of patients who were positive for 7q deletion was calculated. Results: Out of 25 samples, 5 samples were positive for 7 q deletion accounting to 20% of total patients diagnosed with AML. Conclusion: Presence of 7q deletion can be a poor prognostic marker since tumour suppressor genes are present in these regions. Hence cytogenetic markers are very important in deciding treatment and prognosis in these patients.

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Klinefelter Syndrome is one of most common sex chromosomal abnormality in males with incidence of 1 in 600 live births. Fluorescence in situ hybridization (FISH) is a powerful molecular cytogenetic technique which allows rapid detection of aneuploidies on interphase cells and metaphase spreads along with conventional GTG banding technique.Aims and objectives: To evaluate application of karyotyping and FISH as important diagnostic tool in diagnosis Klinefelter Syndrome. Materials and Methods:A retrospective study was conducted on 44 patients who were referred for karyotyping and 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. Chromosomal preparations 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 of Klinefelter syndrome Conclusion:We can conclude that cytogenetic analysis forms important investigation in diagnosis , treatment and fertility status in patients with Klinefelter syndrome.

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