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Volume 9 | Issue 3 | July to September 2016 |
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GeNeDit |
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July to September 2016 | Vol 9 | Issue 3 | Page No 1-2 | |||
Rare Disorders in India: A New Beginning | |||
Most of the genetic disorders are rare. Though
the definition for rare disorders varies in different
countries, the basic premise is that they are not
common. The other aspect about rare disorders
is that most of them do not have curative
treatment. Except Down syndrome and beta
thalassemia, even the commonest of the genetic
disorders like Hemophilia and Duchenne muscular Shubha R Phadke |
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Clinical Vignette |
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July to September 2016 | Vol 9 | Issue 3 | Page No 3-6 | ||||||
Schizencephaly Associated with EMX2 Mutation: A Case Report | ||||||
Schizencephaly is a rare human congenital disorder
of the brain characterized by abnormal continuity
of grey matter tissue extending from the ependymal
lining of the cerebral ventricles to the pial
surface of the cerebral hemisphere surface. We
describe here a 7 year old boy affected with bilateral
schizencephaly, born to non-consanguineous
parents who presented with intellectual disability Manju O Pai, Divya Aggarwal, Joshi Stephen and Shubha R Phadke |
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Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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July to September 2016 | Vol 9 | Issue 3 | Page No 7-12 | ||||||
Coffin Siris Syndrome: A Disorder of SWI/SNF Pathway | ||||||
Coffin-Siris syndrome (CSS) is classically characterized
by aplasia/hypoplasia of the distal phalanx or
nail of the fifth digit, coarse facial features and
moderate to severe developmental delay. CSS
is a genetically heterogeneous disorder with clinical
variability. flecently, mutations in five genes
which encode for subunits of the ATP dependent
chromatin-remodeling complex- switch/sucrose Shivani Mishra and Shubha R Phadke |
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Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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July to September 2016 | Vol 9 | Issue 3 | Page No 13-18 | ||||||
Next Generation Sequencing in New Born Screening - Current Insights | ||||||
Newborn screening (NBS) program refers to a
nation-wide or state-wide program that identifies
and treats newborns with rare congenital conditions
before the onset of symptoms, preventing
premature death and serious disability in thousands
of newborns. Following the great success of
Next Generation Sequencing "NGS) technology in
the clinical diagnosis of genetic disorders, a lot of Deepika Delsa Dean and Sarita Agarwal |
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Abstract | HTML Full Text | Download PDF |
GeNeXprESS |
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July to September 2016 | Vol 9 | Issue 3 | Page No 19-20 | ||||||
Tradition with a Twist: New Avenues for Genetic Tests | ||||||
Fetuses with ultrasonographically detected abnormalities
are known to carry a high percentage
of submicroscopic aberrations in addition to microscopically
visible chromosome abnormalities.
These could only be detected by targeted testing
in case of specific ultrasound anomalies, for
example, 22q11 deletion in fetuses with cardiac
defects. However, prenatal phenotyping based Moirangthem Amita |
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PhotoQuiz |
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July to September 2016 | Vol 9 | Issue 3 | Page No 21 | This male patient presented with spontaneously resolving recurrent edema of different body
parts. In this episode of severe facial edema, infusion of fresh frozen plasma was effective in
recovery. Dr. Shubha R Phadke |
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View PhotoQuiz | Click here to send your answer |
Announcements |
1. Third International Conference on Birth Defects (ICBD-2016) and Third National Conference of SIAMG 2. Dr S S Agarwal Young Scientist Award 2016 3. Dr I C Verma Outstanding Researcher Award 2016 4. Fifteenth ICMR Course in Medical Genetics & Genetic Counseling 5. Manipal Genetics Update III: Skeletal dysplasia 6. An International Summit in Human Genetics and Genomics 7. Genzyme−SIAMG Fellowship in Clinical Genetics |
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