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IAMG

Volume 3 | Issue 1 | January to March 2010

 
 
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GeNeDiT
January to March 2010 | Vol 3 | Issue 1 | Pages 2
Rare Genetic Disorders: Not so Rare in India!
October 2009 witnessed three important conferences for medical geneticists in india. These were the fourth international conference on birth defects and disabilities in developing world(ICBD-2009) held at New Delhi, the second was the 12th Annual Asia Symposium on Lysosomal Storage Disorders (LSD's), held in Taipei, Taiwan and the fourth international conference on ...

Shubha R Phadke
 
GeNeViSTA
January to March 2010 | Vol 3 | Issue 1 | Pages 3-4
De Sanctis Cacchion Syndrome: A rare form of Xeroderma Pigmentosum
De Sanctis Cacchion Syndrome is a rare varient of Xeroderma Pigmentosum; reported incidence is about 18% to 20% of all cases of
Xeroderma Pigmentosum. A two and half years old boy was brought to medical attention of photosensitive rash, photophobia and delayed developmental milestones since infancy...

Amruta Landge, Anjali Toshniwal, Archana Kher, Mamta Muranjan, Keya Lahiri
 
GeNeViSTA
January to March 2010 | Vol 3 | Issue 1 | Pages 5-7
Genetic Evaluation of Male Infertility
Testing for genetic causes for male infertility depends on the clinical and seminal phenotype. A karyotype and analysis for Y-microdeletion are the initial steps in evauation of non-abstructive azoospermia...

Satish Kumar Adiga, Guruprasad Kalthur, Girisha KM and Pratap Kumar
 
GeNeViSTA
January to March 2010 | Vol 3 | Issue 1 | Pages 8-10
Maple Syrup Urine Disease: Importane of Early Diagnosis
Maple Syrup Urine Disease: Importane of Early Diagnosis (MSUD, OMIM #248600) also known as branched-chain ketoaciduria, is a disorder affecting the aliphatic or branched chain amino acids. It is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase complex (BCKD)...

Dr Himanshu Goel
 
GeNefOcuS
January to March 2010 | Vol 3 | Issue 1 | Pages 11-12
New Born Screening in India: Are We Ready?
Population screening of newborns though initiated in the early 1960s is still of increasing interest internationally. The contribution of genetic and conginital conditions to neonatal ill health and survival are being addressed and the 'epidemiologic transition is advancing'. There is a...

Seema Kapur and Madhulika Kabra
 
GeNeXprESS
January to March 2010 | Vol 3 | Issue 1 | Pages 13
Fifty years of Downs Syndrome and more...
Genetics in Medicine (the official journal of the American College of Medical Genetics) has brought out special articles on Down Syndrome on the 50th anniversary of the discovery of the condition. The issue includes a good review on the past, present and the future of research and treatment of the downs syndrome...

Dr Parag M Tamhankar