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Volume 5 | Issue 2 | April-June 2012

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April-June 2012 | Vol 5 | Issue 2 | Pages 1-2
Array of Genetic Tests….For Every Genetic Disorder
The technological advances happening in the twenty-first century are fascinating. Now one can not only look at chromosomes at the molecular level increasing the resolution of chromosomal analysis 1000 times but also sequence each and every nucleotide of the genome. Microarray based...

Shubha R Phadke
April-June 2012 | Vol 5 | Issue 2 | Pages 3-5
Prenatal diagnosis for Freeman Sheldon syndrome: Dilemmas and decisions?
A boy born to non-consanguineous Muslim parents from Jharkhand, India was evaluated at 3 months of age for multiple congenital deformities. Antenatal history revealed that mother had a skin rash with fever, which subsided on its own at 2 ½ months and rest of the gestation was uneventful till seven...

Sumita Danda
April-June 2012 | Vol 5 | Issue 2 | Pages 6-9
Nephrotic Syndrome: A Genetic Perspective
Nephrotic syndrome (NS) is a clinical entity resulting from consequences of increased permeability of the glomerular filtration barrier. It is characterized by hypoalbuminemia, dyslipidemia and edema. Although the typical clinical and laboratory features are sufficient enough to...

Rekha Goyal, Prajnya Ranganath, Shubha R Phadke
April-June 2012 | Vol 5 | Issue 2 | Pages 10-14
Ushering In a New Era of Molecular Diagnostics
It has become necessary for practicing clinicians to be acquainted with advances in genetics. Firstly, with the lowering of the infant mortality rate in India resulting from control of infectious and nutritional disorders, pediatricians encounter more and more children with genetic disorders. Secondly, treatment is now available for many genetic..

IC Verma
April-June 2012 | Vol 5 | Issue 2 | Pages 15
Looking beyond……the vision of a blind man
Big things come in small packages. And the most wonderful surprises spring up where we least expect. As doctors we usually have patronizing attitudes towards our patients. We are always trying to help them, trying to communicate so much of medical jargon, all in good faith and all the time thinking we know what's best for them. But we all have moments when we are humbled by some...

Shagun Bansal, Shubha R Phadke
April-June 2012 | Vol 5 | Issue 2 | Pages 16-17
Newer advances in prenatal diagnosis and gene therapy
A definitive prenatal testing for Down syndrome is done by invasive tests to obtain fetal samples. These invasive tests have at least some risk of fetal loss. Development of an accurate, safe, rapid and noninvasive test for prenatal diagnosis is an area of interesting and active investigation. Fetal genetic...

Dr Asha Rawal