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Volume 10 | Issue 1 | January to March 2017

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January to March 2017| Vol 10 | Issue 1 | Page No 1
Care and Cure
A major part of medical genetics activities continue to revolve around diagnosis, counseling and prenatal diagnosis. Cure still is not on the horizon for many disorders though the hope of gene therapy is alive and bright. The power of genomic techniques like microarray and next generation

Shubha R Phadke
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Clinical Vignette

January to March 2017| Vol 10 | Issue 1 | Page No 2-4
An Unexpected Cause of Macrocephaly in a Child with Leukodystrophy
Leukodystrophies are a heterogeneous group of genetic disorders predominantly involving the white matter of the brain, which are characterised by progressive psychomotor regression and abnormal neuroimaging 􀈴ndings. Macrocephaly is an important clinical 􀈴nding which helps to considerably
Karthik Tallapaka 1, 2, Jamal Md Nurul Jain 2, Ashwin Dalal 2 and Prajnya Ranganath 1, 2*
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January to March 2017| Vol 10 | Issue 1 | Page No 5-8
The Utility and Futility of Targeted Next Generation Sequencing for Carrier Detection in 􀆉At Risk􀆊 Couples
Next generation sequencing has changed the approach to genetic diagnosis and testing in recent times. The days have arrived when a molecular genetic diagnosis can be attempted even without the availability of the proband or affected person. However this requires additional strong evidence
Sunita Bijarnia-Mahay 1*, Deepti Gupta 1, V L Ramprasad 2, Sakthivel Murugan 2, Renu Saxena 1, Sudha Kohli 1, Seiji Yamaguchi 3, Yosuke Shigematsu 4 and I C Verma 1
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January to March 2017| Vol 10 | Issue 1 | Page No 9-17
Osteogenesis Imperfecta: An Update
Osteogenesis imperfecta "OI) is a rare, heritable systemic disorder of bone and connective tissue that has varying phenotypic heterogeneity -varying degree of bone fragility, blue sclerae, dentinogenesis imperfecta, short stature, scoliosis, and joint hyperextensibility. For decades only autosomal
Vartika Giri, Priyanka Srivastava, Meenakshi Lallar and Shubha R Phadke∗
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January to March 2017| Vol 10 | Issue 1 | Page No 18-19
Marching Towards Perfection
Monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs "snoRNAs) are evolutionarily conserved non-protein-coding RNAs involved in ribosome biogenesis. Biallelic mutations in the gene SNORD118,

Aradhana Dwivedi
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January to March 2017| Vol 10 | Issue 1 | Page No 20
This three-year-old boy presented with generalized edema, global developmental delay, coarse facies, gum hypertrophy, short stature and bilateral cherry red spots in the fundus. He...

Dhanya Lakshmi N and Shubha R Phadke
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GeNeEvent - Third International Conference on Birth Defects & Third National Conference of the Society for Indian Academy of Medical Genetics

On the occasion of Childrens day on 14th November 2016, the Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow organised Down Syndrome Milan Samaroh. The program aimed to provide information, foster speech and occupational physiotherapy and highlight...

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1. Manipal Genetics Update on Genetic Counseling
2. 42nd Annual Meeting of the Indian Society of Human Genetics & International Symposium on Trends in Human Genetic Research & Management
3. ISIEM 2017
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