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Volume 3 | Issue 3 | July-September 2010

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July-September 2010 | Vol 3 | Issue 3 | Pages 2
Research in Medical Genetics in India: The Road Ahead
The last two decades have seen evolution of Medical Genetics as a medical sub-specialty. The pace of the discoveries in the field is really overwhelming. It can be said that despite India being one of the most populous countries, the specialty of Medical Genetics is still in its infancy. More than a dozen qualified clinical genetics...

Shubha R Phadke
July-September 2010 | Vol 3 | Issue 3 | Pages 4-7
Preconception Care
Interventions that aim to identify and modify biomedical, behavioral, and social risks to a woman's health or pregnancy outcome through prevention and management may be considered to encompass preconception care. Elaborating this definition, this article hereby aims to address every woman of reproductive age irrespective of....

Aditi Vian Varma, Girisha KM
July-September 2010 | Vol 3 | Issue 3 | Pages 8-10
Triplet Primed PCR (TP-PCR) – A Versatile Method For Molecular Diagnosis Of Triplet Repeat Disorders
Trinucleotide repeats are highly polymorphic regions in the human genome which act as key players in a number of diseases known as triplet repeat disorders. Of these disorders, Friedreich ataxia (FA), Myotonic dystrophy type 1 (DM1) and Fragile X syndrome (FRAX) are caused by expansion of triplet repeats in the non-coding regions of...

Padma Priya T, Ashwin Dalal
Clinical Vignette
July-September 2010 | Vol 3 | Issue 3 | Pages 11-12
Double Trisomy In Two Boys With Down Syndrome
Double trisomy is a rare event in live born babies. Majority of them are seen prenatally and end in miscarriage. Clinical features of the cases with double trisomy Down syndrome are variable and usually involve features of both Down syndrome and Klinefelter syndrome. Here we report two boys with double trisomy...

Seema Thakur, Meena Lall, IC Verma
July-September 2010 | Vol 3 | Issue 3 | Pages 13
Breaking Through Brittle Bone Disease
Osteogenesis imperfecta (OI) is an inherited connective tissue disease characterized by bone fragility and increased susceptibility to fractures. Autosomal dominant OI is caused by heterozygous mutations in either COL1A1 or COL1A2 which disrupt the stability of type 1 collagen, the major protein component of bone. Autosomal...

Dr Parag M Tamhankar