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IAMG |
Volume 9 | Issue 1 | January to March 2016 |
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GeNeDit |
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January to March 2016 | Vol 9 | Issue 1 | Page No 1 | |||
Human Genome Project: A Milestone in the History of Humankind | |||
The ambitious Human Genome Project was successfully
completed in 2003 and the information
about the sequences on all chromosomes became
available to researchers and for patient care. This
issue has an article briey describing the methodologies
and issues involved in the Human Genome Shubha R Phadke |
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Clinical Vignette |
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January to March 2016 | Vol 9 | Issue 1 | Page No 2-8 | ||||||
A genetic syndrome that mimics congenital TORCH infection | ||||||
Warburg micro syndrome (WAflBM) or Micro syndrome
is a rare, genetically heterogeneous, autosomal
recessive syndrome. Patients with WAflBM
present with severe mental retardation, brain
anomalies (polymicrogyria and corpus callosum Neerja Gupta 1, Seema Thakur 2 *, Mark T Handley 3, Raj Bokaria 4, Renu Saxena 5 and Sudha Kohli 5 |
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Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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January to March 2016 | Vol 9 | Issue 1 | Page No 9-15 | ||||||
Human Genome Project and After | ||||||
"What more powerful form of study of mankind
could there be than to read our own instruction book"
– Francis S. Collins, Director, NIH.
"Along with Bach's music, Shakespeare's sonnets,
and the Apollo Space Program, the Human Genome Meenakshi Lallar and Shubha R Phadke |
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Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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January to March 2016 | Vol 9 | Issue 1 | Page No 16-20 | ||||||
Rapid Aneuploidy Detection (RAD) Techniques for Prenatal Diagnosis | ||||||
Chromosomal abnormalities, both numerical and
structural, are known to occur in approximately 1 in
200 live births. The diagnosis for chromosomal abnormalities
in the antenatal period is usually done
by conducting cytogenetic analysis of amniotic, Pranita Pai, Anju Shukla and Girisha K M |
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Abstract | HTML Full Text | Download PDF |
GeNeXprESS |
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January to March 2016 | Vol 9 | Issue 1 | Page No 21-22 | ||||||
Next Generation Sequencing Facilitates Disease Discoveries | ||||||
Next generation sequencing (NGS) has covered a
long way from the lab to the clinic, especially
with respect to new born screening (NBS). Whole
genome sequencing (WGS) may help in detecting
or ruling out not only disorders currently detected Priyanka Srivastava |
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Abstract | HTML Full Text | Download PDF |
HearToHearTalk |
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January to March 2016 | Vol 9 | Issue 1 | Page No 23-24 | ||||||
The Burden of Diagnosis | ||||||
I asked the resident to find out if Baby of Malini
(name changed) had undergone the bone marrow
transplantation. When the resident doctor called
the father of the baby, we got the sad news that
bone marrow transplant was not done and the Shubha R Phadke |
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Abstract | HTML Full Text | Download PDF |
PhotoQuiz |
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January to March 2016 | Vol 9 | Issue 1 | Page No 25 | This 5 year old intellectually normal girl presented with short stature and joint
deformities. Radiographs of the spine, hip, knees and hands are shown. Identify the
condition. Dr. Shubha R Phadke |
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View PhotoQuiz | Click here to send your answer |
Announcements |
1. Manipal Genetics Update :
International Skeletal Dysplasia Workshop 2. Genzyme−SIAMG Fellowship in Clinical Genetics |
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