Mosaic triple X syndrome in a female with primary amenorrhea.

BACKGROUND: Turner's syndrome is the most common chromosomal abnormality in females, affecting 1 in 2,500 live female births. It is a result of absence of an X chromosome or the presence of a structurally abnormal X chromosome. Its most consistent clinical features are short stature and ovarian failure. AIM: The aim of the study was to report a rare case of mosaic triple X syndrome in a female with primary amenorrhea. MATERIALS AND METHODS: The chromosomal analysis using GTG banding was carried out, which revealed a mosaicism with 45,XO/47,XXX chromosomal constitution. Fluorescent in situ hybridization was also carried out to further confirm the observation made in the study. CONCLUSION: The physical features presented by the female could be due to the 45,XO/47,XXX mosaicism and the karyotype analysis was consistent with the diagnosis and clinical symptoms. Triple X mosaicism was confirmed with conventional and molecular cytogenetic analysis.

De novo chromosomal translocation t(3;5)(q13;q35) in an infertile man.

Chromosomal rearrangements are rare structural abnormalities that are usually associated with male infertility or sterility. We describe here the clinical and cytogenetic studies carried out in a couple with repeated abortions. Cytogenetic analysis of the male partner showed a de novo chromosomal translocation t(3;5)(q13;q35) which could be involved in the meiotic errors resulting in reproductive failure.

A rare case of peripheral vascular graft infection by Aspergillus fumigatus and review of the literature.

We present an unusual case of a 74-year-old woman who presented with a pseudoaneurysm at the site of a previous prosthetic femoro-popliteal bypass graft and underwent an urgent repair with pseudoaneurysm excision and extra-anatomic placement of an autologous venous graft. Microbiology examination revealed Aspergillus fumigatus infection of the graft, which is a very rare condition. Long-term antifungal medication has been administrated with positive outcome. Only a few cases have been reported in literature, mainly involving aortic grafts. Most patients are immunocompetent and with late presentation. Successful outcome can only be achieved with long-term antifungal treatment and extra-anatomic replacement of the graft.

Operative repair of an incidentally diagnosed giant hepatic artery aneurysm.

Hepatic Artery Aneurysms (HAA) are rare vascular lesions which are associated with significant morbidity and mortality in the event of rupture. Early diagnosis and expedient management are therefore important to optimise outcome. Here we report a case of a giant Hepatic Artery Aneurysms (HAA) found incidentally on Computerised Tomography, successfully managed without complication by elective surgical repair.

Clinical and behavioural profile of a rare variant of Klinefelter syndrome-48, XXXY.

Klinefelter's syndrome is a sex chromosomal aneuploidy caused by an addition of X chromosome in males (47,XXY).Variants of this syndrome with X and Y polygamy are of rare occurrence. Here we describe a rare case of 48, XXXY Klinefelter's variant from South India with a reported incidence of 1 per 17,000 to 1 per 50,000 male births. The presence of an extra X chromosome/s in these individuals has a great impact on the physical and cognitive functions, which could be attributed to gene dosage effects and genes involved in neurogenic development.