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Volume 8 | Issue 2 | April to June 2015 |
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GeNeDit |
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| April to June 2015| Vol 8 | Issue 2 | Page No 1 | |||
| Big leaps in diagnostics, small steps in therapeutics | |||
| Correct diagnosis is the first step to treatment.
Treatment is aimed at cure. DNA based diagnosis
of monogenic disorders has been established and
more diagnostic tests are being added rapidly.
Gone is the era of linkage based diagnosis; today Shubha R Phadke |
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Clinical Vignette |
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| April to June 2015| Vol 8 | Issue 2 | Page No 2-3 | ||||||
| Inherited 13q deletion in a first trimester fetus with prenatally detected parietal cephalocele | ||||||
| Parietal cephalocele communicating with the third
ventricle is a rare variety of cephalocele. In this case
rst trimester ultrasonographic evaluation showed
a parietal cephalocele which was associated with
deletion of the distal part of the q arm of chromosome
13. Karyotyping of the couple revealed Anjurani Siddesh and Shubha R Phadke |
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| Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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| April to June 2015| Vol 8 | Issue 2 | Page No 4-8 | ||||||
| Duchenne Muscular Dystrophy | ||||||
| With an incidence of 1 in 3500 affected males,
Duchenne Muscular Dystrophy (DMD) is the most
common muscular dystrophy and is inherited in
an X-linked recessive pattern. Though this disorder
has been known for two centuries, delays in its
diagnosis and non-uniform practice of care exist
even to date. Decades of research has led to
better understanding of the pathophysiology of Udhaya H Kotecha |
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| Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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| April to June 2015| Vol 8 | Issue 2 | Page No 9-12 | ||||||
| Prediction of Pathogenicity of Sequence Variations | ||||||
| The human genome project revealed full landscape
of human genome at nucleotide level. This enabled
us to identify differences between normal human
genome "reference genome) and nucleotide sequence
of patients. Sequence variations exist
at defined positions within genomes and are responsible Divya Matta and Ashwin Dalal |
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GeNeXprESS |
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| April to June 2015| Vol 8 | Issue 2 | Page No 13-14 | ||||||
| Exome sequencing reaches the clinic | ||||||
| Since its first use nearly five years ago, next generation
sequencing has made significant inroads
into research as well as diagnostic laboratories.
Now here comes the proof for applying whole
exome sequencing in the clinic for the diagnosis of
genetic disorders.1,2 Studies have shown that the
diagnostic yield of exome sequencing is likely to
be around 25%. Compared with other traditional Girisha KM |
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| Abstract | HTML Full Text | Download PDF |
PhotoQuiz |
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| April to June 2015| Vol 8 | Issue 2 | Page No 15 | An 8-years-old girl had clinical features of cloverleaf skull, telecanthus, midface
retrusion, brachydactyly, cutaneous syndactyly, postaxial polydactyly, Anju Shukla |
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Announcements |
1. Fourteenth ICMR Course in Medical Genetics & Genetic Counseling 2. GeNeEvent -- PediGen2015 |
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