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Volume 7 | Issue 4 | October to December 2014

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October-December 2014 | Vol 7 | Issue 4 | Page No 1
Common Genetic Disorders: Every Clinician's Responsibility
Though we do not have prevalence data for most genetic disorders in India, sufficient prevalence data is available for at least some of the common genetic disorders such as beta thalassemia, Down syndrome and neural tube defects. The facilities for primary and secondary prevention of these common disorders are available in

Shubha R Phadke
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Clinical Vignette

October-December 2014 | Vol 7 | Issue 4 | Page No 2-4
More than one genetic affliction within the same family: Two case reports
Genetic disorders, though rare, are still responsible for 2-3% of babies having congenital or genetically-determined abnormalities at birth. Rarer still is the possibility of more than one genetic disorder afflicting the same family. In spite of that, such families do exist and it

Divya Agarwal and Shubha R Phadke
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October-December 2014 | Vol 7 | Issue 4 | Page No 5-8
Current strategies for mapping the genes for Mendelian traits
Mendelian traits or disorders refer to a group of phenotypes that exhibit one of the characteristic modes of inheritance: autosomal dominant, autosomal recessive and sex linked. These are also called 􀈆single gene disorders􀈇 or 􀈆monogenic traits􀈇 as it is usually a single gene that has a major effect on the phenotype. Though individually rare, as a group, there are more than 7,500 disorders

Girisha KM
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October-December 2014 | Vol 7 | Issue 4 | Page No 9-14
Application of Molecular Biology in Clinical Microbiology
During the past 10 to 15 years, there has been extensive growth in the use of molecular biology techniques in the clinical laboratory and their various applications. As a result of this development, many laboratories are able to offer increased sensitivity of testing, faster turnaround times, and ultimately improved patient care.1 The applications of molecular technology in clinical microbiology

Ashish Bahal and Ashwin Dalal
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October-December 2014 | Vol 7 | Issue 4 | Page No 15-16
Next generation sequencing: window to a new era of molecular diagnostics
The advent of next generation sequencing has changed the scenario of diagnostic methodology. This new technique has been used in various areas ranging from the identification of new genes for single gene disorders, diseases with locus/ phenotypic heterogeneity, discovery of cancer causing genomic variations and understanding the pathogenicity

Deepti Saxena
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October-December 2014 | Vol 7 | Issue 4 | Page No 17
This male fetus of 20 weeks gestational age was referred for fetal autopsy evaluation. Antenatal ultrasound had detected anencephaly and oral clefting. Identify the condition.

Dr. S J Patil
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1. Genzyme−SIAMG Fellowship in Clinical Genetics
2. Indo - US Symposium on Genomic Insights into Human Morphogenesis And First Annual Meeting of Society for Indian Academy of Medical Genetics
3. Manipal Genetics Update
4. Second National Pediatric Genetics Conference -- PediGen2015
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