INDIAN ACADEMY OF MEDICAL GENETICS

GeNeDit

January to March 2015 | Vol 8 | Issue 1 | Page No 1

Genotype-Phenotype Correlation in the True Sense of the Word!

Diagnostic testing for genetic disorders is undergoing a paradigm shift from targeted testing to genomic testing. With availability of genomic techniques like microarray and high through-put sequencing of the exome or whole genome sequencing,

Shubha R Phadke

Clinical Vignette

January to March 2015 | Vol 8 | Issue 1 | Page No 3-5

Prader-Willi syndrome due to an unbalanced chromosomal rearrangement

Prader-Willi syndrome is a genomic imprinting disorder occurring at a frequency of 1/10,000 to 1/20,000. It is characterized by hypotonia, feeding difficulties often associated with failure to thrive during infancy and global developmental delay. Around 1 to 4 years of age, children develop hyperphagia leading to obesity. These

Deepti Saxena and Shubha R Phadke

GeNeViSTA

January to March 2015 | Vol 8 | Issue 1 | Page No 6-10

Radial Ray Defects: Genetics and Syndromic Etiologies

Limb anomalies are a commonly occurring group of malformations, deformations and disruptions due to the developmental complexity of the limbs, their extended period of morphogenesis and their position outside the body wall. Limb malformations can be a part of chromosomal aberrations or an array of single gene disorders or may occur due to environmental teratogens. fladial ray defects are a group of limb malformations characterized by unilateral or bilateral absence of the

Sankar VH

GeNeViSTA

January to March 2015 | Vol 8 | Issue 1 | Page No 11-12

Importance of phenotype in exome variant analysis

Mutation detection is the gold standard for the diagnosis of monogenic disorders. The advent of next generation sequencing strategies has revolutionized diagnostics in genetics. The whole genome and whole exome can now be sequenced with ease and at an affordable cost. For the disorders caused by large sized genes or with etiological heterogeneity, this is a great boon. Enormous data is

Dhanya Lakshmi N and Shubha R Phadke

GeNeXprESS

January to March 2015 | Vol 8 | Issue 1 | Page No 13-14

Innovative orphan drugs: a revolutionary evolution in the treatment of genetic diseases

X linked hypohydrotic ectodermal dysplasia is a relatively common genetic disorder characterised by the triad of hypotrichosis, hypohidrosis and hypodontia. EDA, the gene responsible for X-linked HED, produces ectodysplasin-A, a protein that is important for normal development of ectodermal appendages including hair, teeth, and sweat glands. Defects in the molecular structure of ectodysplasin-A may inhibit the action of enzymes necessary for normal development of the ectoderm

Moni Tuteja

PhotoQuiz

January to March 2015 | Vol 8 | Issue 1 | Page No 15

This 29 day-old female baby was referred for evaluation of hand and foot anomalies noted since birth. She was born at term gestation and had a normal birth weight. The feeding and

Dr. Divya Agarwal