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Volume 7 | Issue 4 | October to December 2014 |
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GeNeDit |
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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 |
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| 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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| Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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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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| Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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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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GeNeXprESS |
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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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PhotoQuiz |
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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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Announcements |
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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