INDIAN ACADEMY OF MEDICAL GENETICS

GeNeDit

April to June 2017| Vol 10 | Issue 2 | Page No 1-2

Genetic Counselors: Plan for the Best Utilization of the New Armamentarium

Genetic Counselors: Plan for the Best Utilization of the New Armamentarium Genetic counseling is an integral and very important part of the management of genetic disorders, as lack of curative treatment and possibility of recurrence in the family are the realities for many genetic disorders even in the twenty-first century. Genetic counseling is a demanding and challenging scientific and communication skill and successful

Shubha R Phadke

Clinical Vignette

April to June 2017| Vol 10 | Issue 2 | Page No 3-4

Nail Patella Syndrome: A Case Report and Review of Literature

Nail patella syndrome is a rare autosomal dominant disorder characterized by nail dysplasia, absent or hypoplastic patella, abnormality of the elbows and presence of iliac horns. Here, we report a case of a one-and-half-year-old girl with nail patella syndrome. Mutation analysis of the patient revealed a known de novo pathogenic variant

Vishal Gupta 1, Vinod Kumar 1, Smrithi Salian 1, Hitesh Shah 2 and Girisha KM 1*

GeNeViSTA

April to June 2017| Vol 10 | Issue 2 | Page No 5-10

Exome Data Analysis for Clinicians: How and Why

Exome sequencing is a next generation sequencing (NGS) technology where only the coding regions of the genome (known as exome) are sequenced. The technology involves two major steps: capturing the exonic region of DNA that encodes proteins, constituting about 1% of the human genome (≈30 Mbps) and then sequencing these regions

Aneek Das Bhowmik and Ashwin Dalal

GeNeViSTA

April to June 2017| Vol 10 | Issue 2 | Page No 11-19

Fetal Dysmorphology: An Indispensable Tool for Synthesis of Perinatal Diagnosis

Dysmorphology is the science (and art!) of studying abnormal form, with special emphasis on subtle findings which provide clue to an underlying diagnosis, mostly a genetic syndrome. It has been the prime tool of the geneticist enabling a syndromic diagnosis on basis of patient's gestalt with findings like a white forelock

Shagun Aggarwal

GeNeXprESS

April to June 2017| Vol 10 | Issue 2 | Page No 20-21

Myth Unmethylated: Novel Therapies for Methylation-Related Neurodevelopmental Disorders

Fragile X syndrome (FXS) is a CGG-repeat disorder of the FMR1 gene caused by epigenetic gene silencing. In the presence of the elongated CGG repeat, epigenetic modifying drugs result in only transient FMR1 reactivation. CRISPR/Cas9 genome editing was used to excise the expanded CGG-repeat in both somatic cell hybrids

Shivani Mishra

PhotoQuiz

April to June 2017| Vol 10 | Issue 2 | Page No 21

The clinical photograph and radiograph of a 20 weeks female fetus are shown. Cleft palate, atrial septal defect and unilateral hydronephrosis, brachydactyly...

Girisha KM