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Volume 13 | Issue 4 | October to December 2020

ISSN : 2454-8774
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October to December 2020 | Vol 13 | Issue 4 | 01-02
Privilege to be a Clinician for Six Thousand Genetic Disorders!
Yes, you got it right; I am talking about a clinical geneticist who cares for rare disorders. We are just on the verge of a new paradigm in the treatment of genetic disorders. Success of gene therapy trials is what the first-generation clinical geneticists were dreaming of. The GenExpress in this issue lists ...

Dr. Shubha Phadke
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Clinical Vignette

October to December 2020 | Vol 13 | Issue 4 | 03-06
Ghosal Hematodiaphyseal Dysplasia: An Unusual but Easy-to-Diagnose Genetic Cause of Anemia
Ghosal hematodiaphyseal dysplasia (GHDD) also known as Ghosal syndrome (OMIM# 231095) is a rare autosomal recessive disorder associated with skeletal changes in the form of increased bone density and predominant diaphyseal involvement, and hypoplastic anemia (Ghosal et al., 1988). It is caused by biallelic va...

Amrita Bhattacherjee1, Ashwin B Dalal1, Prajnya Ranganath1,2,*
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October to December 2020 | Vol 13 | Issue 4 | 07-15
A Case Series of Double Segment Imbalances: Delineation of Phenotypes and Comparison with Phenotypes of Isolated Copy Number Variations
This study undertaken at a tertiary hospital documents the phenotypes of patients with double segment chromosomal imbalances (DSI) and compares the phenotypes with those of the isolated copy number variations (CNV) of the concerned regions. Twenty cases diagnosed as DSI in our department over the last four ye...

Anup Rawool, Mayank Nilay, Deepti Saxena, Priyanka Srivastava, Amita Moirangthem, Kausik Mandal, Shu
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October to December 2020 | Vol 13 | Issue 4 | 16-19
Silver-Russell Syndrome: Case Report and Insights for Prenatal Diagnosis
Silver–Russell syndrome (SRS), OMIM #180860, is characterised by prenatal and postnatal growth retardation. The syndrome was initially described in a group of children with low birth weight, atypical facies, postnatal short stature and body asymmetry independently by Silver et. al. (1953) and Russel (1954)....

Seema Thakur1*, Preeti Palliwal2, Arpana Jain1, Tanu Gera1, Sunita Kapoor3, Deepa Khurana3
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October to December 2020 | Vol 13 | Issue 4 | 20-21
Gene Therapies for Genetic disorders
RPE65-associated LCA is an inherited retinal degeneration. In 2017, the US Food and Drug Administration (FDA) approved the first directly administered gene therapy that targets RPE65, voretigeneneparvovec-rzyl (Luxturna...

Neha Agrawal
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October to December 2020 | Vol 13 | Issue 4 | 22-23
Letter to the Editor
Dear Editor,
The McKusick short course is one of the most sought-after platforms for a peek into the exciting world of genetics. It is a two weeks long annual programme, conceived by Victor McKusick...

Veronica Arora, Sudisha Dubey, Ratna Dua Puri
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October to December 2020 | Vol 13 | Issue 4 | 23-24
The Night May Be Dark, but the Morning Will Be Brighter!
The year 2020 has been a strange and frustrating year. Everyone of us, whether doctors or the society as a whole, is dealing with the COVID-19 pandemic, though the scenario has changed considerably from the...

Mayank Nilay
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October to December 2020 | Vol 13 | Issue 4 | 25
Answer to PhotoQuiz 49...

Dr Shubha R Phadke
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CrossWord - 01

Contributed by: Dr Koumudi Godbole
Correspondence to: Dr Koumudi Godbole, Email: koumudig@gmail.com
Please send your responses to editor@iamg.in
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1. Evolution of Genetic Clinics: 2008 – 2020
2. SIAMG-Genzyme Fellowship Program in Clinical Genetics
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