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Volume 10 | Issue 4 | October to December 2017

ISSN : 2454-8774
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October‐December 2017 | Vol 10 | Issue 4 | Page No 1
Crisp, Crisper and Easy to Digest
This is the thirty-eighth issue and tenth year of Genetic Clinics! A relook at the old issues gives a brief history of an exciting decade in the era of medical genetics. Genetic Clinics has been presenting the latest and most fascinating developments in the field of genetics to its readers. An attempt is made...

Dr. Shubha R Phadke
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Clinical Vignette

October‐December 2017 | Vol 10 | Issue 4 | Page No 2-3
Camurati-Engelmann Disease: A Case Report
Among the genetic causes of osteosclerosis, Camurati-Engelmann disease is a rare entity. Bhadada et al. have recently reported the first Indian family with genetic confirmation of Camurati- Engelmann Disease (CED) (Bhadada et al., 2014). Here we describe another case of CED with molecular confirmation....

Divya Pachat 1, Krati Shah 1, Wim Van Hul 2, Thambu David 3 and Sumita Danda 1
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Clinical Vignette

October‐December 2017 | Vol 10 | Issue 4 | Page No 4-6
Dyggve-Melchior-Clausen Syndrome: A Case Report
We report a case of short stature with delayed mile stones. The child was evaluated and the diagnosis of Dyggve-Melchoir-Clausen Syndrome was considered . Confirmation of the diagnosis was done by next generation sequencing-based molecular genetic testing, as the mother had an ongoing pregnancy and prenatal d...

Vasikarla Madhavi
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October‐December 2017 | Vol 10 | Issue 4 | Page No 7-14
Inherited Disorders of DNA Repair
DNA repair disorders are inherited disorders resulting from defective DNA repair mechanisms of the cell, most of which have an autosomal recessive pattern of inheritance. Majority of these disorders are associated with immunodeficiency states and an increased predisposition to malignancies. This article revie...

Lekshmi Nair, Surya Prabha B and Prajnya Ranganath
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October‐December 2017 | Vol 10 | Issue 4 | Page No 15-16
How Far Have We Progressed in Cutting and Pasting the Genome
CRISPR/cas9 was proposed to have the ability to correct disease- causing mutations by gene editing. Previous studies done showed that the efficacy of homology directed repair (HDR) was only 10% when CRISPR/ cas9 was used in triploid human embryos. In this study, the authors have performed cas9-mediated gene e...

Dhanya Lakshmi N
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October‐December 2017 | Vol 10 | Issue 4 | Page No 17
This 13-months-old female child, born of non-consanguineous parents, presented with prenatal onset growth restriction, generalised skin rash of neonatal onset, right talipes...

Dr. Shagun Aggarwal
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1. 4th National Conference of Society forIndian Academy of Medical Genetics (SIAMG)
2. Society for Indian Academy of Medical Genetics CME on Recent Advances in Pediatric Genetics
3. 2nd International Conference on Founder Populations The Landscape of Genetic Variants in Asian Founder Populations - from Near to Far East
4. Manipal Genetics Update V: Genetics of Neurodevelopmental Disorders
5. PediGen2018, the 3rd Pediatric-Genetics Conference
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