INDIAN ACADEMY OF MEDICAL GENETICS

GeNeDit

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

Clinical Vignette

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

GeNeViSTA

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

GeNeViSTA

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

GeNeXprESS

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

PhotoQuiz

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