We report on a pair of male monozygotic twins with 22q11.2 microdeletion, discordant phenotype and discordant deletion size. The second twin had findings suggestive of DiGeorge syndrome, while the first twin had milder anomalies without any cardiac malformation. The second twin had presented with intractable convulsion, cyanosis and cardiovascular failure in the fourth week of life and expired on the sixth week of life, whereas the first twin had some characteristic facial appearance with developmental delay but no other signs of the 22q11.2 microdeletion syndrome including cardiovascular malformation. The fluorescence in situ hybridization (FISH) analysis had shown a microdeletion on the chromosome 22q11.2 in both twins. The interphase FISH did not find any evidence for the mosaicism. The genomic DNA microarray analysis, using HumanCytoSNP-12 BeadChip (Illumina), was identical between the twins except different size of deletion of 22q11.2. The zygosity using HumanCytoSNP-12 BeadChip (Illumina) microarray analysis suggested monozygosity. This observation indicates that altered size of the deletion may be the underlying etiology for the discordance in phenotype in monozygotic twins. We think early post zygotic events (mitotic non-allelic homologous recombination) could have been played a role in the alteration of 22q11.2 deletion size and, thus phenotypic variability in the monozygotic twins.

Homocysteine (tHcy) has been hardly studied among patients with head injury. This study was to evaluate whether there is any independent impact of tHcy levels on neurological outcome following head injury in a multivariate model. Patients admitted within 24 h of injury were included in the study, along with 20 age- and gender-matched controls. Plasma levels of tHcy were measured at admission using direct immunoassay. All the variables were analyzed with respect to tHcy levels and outcome according to Glasgow Outcome Score (GOS) at 3 months. Univariate and multivariate analyses were performed using SPSS 21. There were a total of 72 patients in the study. tHcy levels were significantly higher after head injury (mean 24.03[SD ± 16.0] μmol/L), compared to matched controls (mean 16.62 [SD ± 10.4] μmol/L) (p = 0.05). Patients with severe head injury, acute SDH, or diffuse higher radiological grades had greater levels of tHcy compared to others. There was a significant relationship between tHcy level and neurological outcome. tHcy levels were significantly higher in patients who had unfavorable GOS (mean 36.22[±25.3] μmol/L), compared to those with favorable GOS (mean 22.71[±14.3] μmol/L) (P = 0.03). In multivariate analysis, tHcy level (adj. odds ratio [OR] 1.17, P = 0.05) and Glasgow Coma Scale (adj. OR 5.17, P = 0.01) had significant association with neurological outcome at 3 months independent of age, dietary habit, radiological grading and of each other. tHcy level has significant independent impact on neurological outcome and may be useful as a prognostic marker following head injury.

BackgroundThe 22q11.2 microdeletion syndrome is a common condition that is associated with cardiac as well as extra-cardiac manifestations. Its prevalence and manifestations from north India has not been reported. This study was designed to determine the prevalence and ability of clinical criteria to predict 22q11.2 microdeletion.MethodsA total of 146 cases of cardiac malformation requiring tertiary care at a teaching hospital were prospectively screened for 22q11.2 microdeletion using fluorescence in situ hybridization test. Detailed clinical information was obtained as per guidelines of Tobias, et al (1999).ResultsNine out of 146 patients (6.16%) was found to have 22q11.2 microdeletion. All the positive patients showed the presence of extra-cardiac features of 22q11.2 microdeletion syndrome. None of the cases with isolated cardiac defect were positive for microdeletion.ConclusionsIt seems that 22q11.2 microdeletion syndrome is over-suspected in children with isolated congenital heart defects. Screening for 22q11.2 microdeletion should be considered in those cardiac malformation cases which have extra-cardiac manifestations in the form of facial dysmorphism and hypocalcaemia.

The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature.

AIMS AND OBJECTIVE:Primed in situ labeling/synthesis (PRINS) technique is an alternative to fluorescent in situ hybridization for chromosome analysis. This study was designed to evaluate the application of PRINS for rapid diagnosis of common chromosomal aneuploidy.MATERIALS AND METHODS:We have carried out PRINS using centromere specific oligonucleotide primers for chromosome X, Y, 13, 18 and 21 on lymphocyte metaphase and interphase cells spread. Specific primer was annealed in situ, followed by elongation of primer by Taq DNA polymerase in presence of labeled nucleotides. Finally, reaction was stopped and visualized directly under fluorescent microscope.RESULTS:Discrete centromere specific signals were observed with each primer.CONCLUSION:PRINS seems to be a rapid and reliable method to detect common chromosome aneuploidy in peripheral blood lymphocyte metaphase and interphase cells.

Dark-coloured semen is rarely observed in men with nonobstructive azoospermia in absence of genital tract bleeding. Dark-coloured semen is also observed rarely in men with spinal cord injury with or without genital tract bleeding. However, this condition has not been reported in the literature in absence of genital tract bleeding or spinal cord injury. Here, we report men with nonobstructive azoospermia with dark-coloured semen and without genital tract bleeding or spinal cord injury. The study included four subjects with dark-coloured semen. All the samples first investigated for the presence of red blood cells as well as haemoglobin. All the cases were examined in details with seminal, hormonal and genetic parameters. In addition, an elemental electron microscopy and inductively coupled plasma-atomic emission spectrometry evaluation for heavy metals was performed. The semen parameters showed normal volume, pH, leucocyte count and azoospermia or oligoazoospermia. Dark-coloured semen specimens contained neither red blood cells nor haeme pigment. Electron microscopy showed presence of platinum in all the cases, whereas inductively coupled plasma-atomic emission spectrometry revealed increased levels of lead, manganese and nickel in serum as compared to controls. The results indicate dark-coloured semen may be linked with heavy metals found in seminal cells.

Optical coherence tomography (OCT) is analogous to ultrasound biometry in the cross sectional imaging of ocular tissues. Development of current devices with deeper penetration and higher resolution has made it popular tool in clinics for visualization of anterior segment structures. In this review, the authors discussed the application of AS-OCT for diagnosis and management of various corneal and ocular surface disorders. Further, recent developments in the application of the device for pediatric corneal disorders and extending the application of OCT angiography for anterior segment are introduced.

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