Genetic Clinics
GeNeDit
October to December 2016| Vol 9 | Issue 4 | Page No 1
Putting Together the Pieces of the Genome Puzzle: Steps towards a Clear Picture
DNA is the basic molecule and genetics is the basic science for biology and medicine. This truth is getting wider acceptance by the medical community as nowadays any disease of any system, monogenic to multifactorial and infectious disease to cancers, needs a molecular diagnosis. Cancer
Shubha R Phadke
Clinical Vignette
October to December 2016| Vol 9 | Issue 4 | Page No 2-4
Leri-Weill Dyschondrosteosis Caused by SHOX Gene Deletion: A Case Report
Leri-Weill dyschondrosteosis is a dominantly inherited skeletal dysplasia characterized by the classic triad of short stature, mesomelia and Madelung wrist deformity, which is caused by mutation in the SHOX gene. We report the case of a 14 years old girl with short stature and forearm deformity
Bharti Singh and Shubha R Phadke
GeNeViSTA
October to December 2016| Vol 9 | Issue 4 | Page No 3-12
Clinical Cytogenetics in the Diagnosis and Prognosis of Leukemias
Leukemias are a group of disorders characterized by accumulation of malignant white cells in the bone marrow and blood. They are neoplastic, clonal disorders of the hematopoietic stem cells. They can be broadly classified as acute and chronic leukemias. The term acute, historically referring
Krishna Reddy CH and Ashwin Dalal
GeNeViSTA
October to December 2016| Vol 9 | Issue 4 | Page No 13-17
Diagnostic Yield of Exome Sequencing in Neurodevelopmental Disorders
Neurodevelopmental disorders affect around 3-5% of the population. These are heterogeneous in etiology and more bettingly termed symptom complexes. The various disorders presenting with intellectual disability may be congenital or acquired, sporadic or familial, syndromic or non
Moirangthem Amita and Shubha R Phadke
GeNeXprESS
October to December 2016| Vol 9 | Issue 4 | Page No 18-19
Next Generation & Beyond...
The Exome Aggregation Consortium or the ExAC is an effort to aggregate and harmonise exome sequencing data from various sequencing projects around the world. The group in its first publication has published the analysis of genetic variation in protein coding regions of the human genome in
Karthik Tallapaka and Prajnya Ranganath
PhotoQuiz
October to December 2016| Vol 9 | Issue 4 | Page No 21
The sequencing track below shows a part of sequence from beta globin gene in a carrier for Thalassemia. The normal sequence of...
Dr. Ashwin Dalal
GeNeToon
Black and white little banded bar, How I wonder what you are Down through the microscope I gaze, Trying to focus through the haze How do I identify each one in this mix, Amongst the chromosomes forty and six...
GeNeEvent - FetalMed2016
FetalMed 2016, the Annual Congress of the Society of Fetal Medicine, was held at Kolkata from 9th-11th September, 2016. The event was attended by delegates from all over India and from many countries across the globe including the USA, UK, France, Thailand, Afghanistan, Bangladesh and Australia. The event was co-hosted by the Bengal Obstetrics and Gynecological Society. It included one day of workshops and two days of conventional symposia. The workshops were crafted to...
Announcements
1. Dr S S Agarwal Young Scientist Award 2016
2. Dr I C Verma Outstanding Researcher Award 2016
3. Manipal Genetics Update III: Skeletal dysplasia
4. Third International Conference on Birth Defects (ICBD-2016) & Third National Conference of the Society for Indian Academy of Medical Genetics (SIAMG)
5. Genzyme−SIAMG Fellowship in Clinical Genetics
6. Task Force on Lysosomal Storage Disorders
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