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Volume 5 | Issue 4 | October-December 2012

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October-December 2012 | Vol 5 | Issue 4 | Pages 1-2
Genes to Genome: Deciphering Complexities
The American College of Medical Genetics has settings changed its name to American College of Medical Genetics and Genomics. This is the effect of revolution in molecular techniques. Everything is changing from Genetics to Genomics. Gone is the era of sequencing one gene after the other. One can...

Shubha R Phadke
October-December 2012 | Vol 5 | Issue 4 | Pages 3-5
From Gene Mapping to Gene Therapy
In the modern era, direct to consumer genetic testing (DTCGT) has enabled lay persons to order genetic tests without the guidance of a health professional. This tendency has given rise to many uncertainties regarding which genetic tests can be directly offered to individuals and possible benefits ...

Dr Meenal Agarwal
October-December 2012 | Vol 5 | Issue 4 | Pages 6-8
22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)
22q13.3 deletion syndrome also known as Phelan- McDermid syndrome is caused by subtelomeric deletion of the long arm of chromosome 22. The deletion could be a pure deletion or could be the result of an unbalanced structural chromosomal rearrangement. Clinical phenotype of 22q13.3...

Siddram J Patil, Pooja N Rao
October-December 2012 | Vol 5 | Issue 4 | Pages 9-14
Inborn Errors of Metabolism with an acute presentation: Representative phenotypes
With access to advanced technology along with greater awareness, pediatricians encounter situations necessitating knowledge of diagnosis and management of metabolic disorders. The main aim of this paper is to present a simplified approach through case studies to enable diagnosis of inborn

Ratna D Puri, Sunita Bijarnia, Udhaya Kotecha, Jyotsna Verma, Renu Saxena, I C Verma
October-December 2012 | Vol 5 | Issue 4 | Pages 15-17
Advances in the therapy of genetic disorders
The common perception among pediatricians is that genetic disorders have no treatment. This is partially true, but so is the case for many disorders other than infectious, nutritional and parasitic disorders With improved understanding of the pathogenesis of genetic disorders the situation is set to change....

Dr I C Verma