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Volume 8 | Issue 1 | January to March 2015 |
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GeNeDit |
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| 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 |
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Clinical Vignette |
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| 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 |
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| Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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| 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 |
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| Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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| 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 |
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| Abstract | HTML Full Text | Download PDF |
GeNeXprESS |
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| 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 |
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| Abstract | HTML Full Text | Download PDF |
PhotoQuiz |
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| 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 |
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| View PhotoQuiz | Click here to send your answer |
Announcements |
1. Genzyme−SIAMG Fellowship in Clinical Genetics | ||
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