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Volume 14 | Issue 1 | January to March 2021 |
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GeNeDit |
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| January to March 2021| Vol 14 | Issue 1 | Page No 01 | |||
| From the Editor's desk | |||
| I take great pleasure in presenting the 51st issue of Genetic Clinics. We have the honour of publishing in this issue, an invited editorial by Dr John Carey, former editor-in-chief of the American Journal of Medical Genetics. Dr. Shubha Phadke |
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PhotoQuiz |
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| January to March 2021| Vol 14 | Issue 1 | Page No 01 | |||||
| PhotoQuiz 51 | |||||
| This 10 months-old male child was referred for evaluation of anemia with thrombocytopenia, hepatosplenomegaly, visual impairment with optic atrophy, and hearing loss.
Dr Prajnya Ranganath |
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| View PhotoQuiz | Click here to send your answer |
Invited Editorial |
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| January to March 2021| Vol 14 | Issue 1 | Page No 02-05 | ||||
| Reflections on Phenotype, Syndrome Delineation, and Six Decades of Medical Genetics | ||||
| Dr John C Carey, Professor and formerly Vice Chair of Academic Affairs, Department of Pediatrics at the University of Utah, USA, is one of the most eminent medical genetics experts in the world. Throughout his brilliant career, spanning over 4 decades,
Dr John C Carey |
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Clinical Vignette |
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| January to March 2021| Vol 14 | Issue 1 | Page No 06-09 | ||||||
| Hystrix-like Ichthyosis and Deafness Syndrome in a Toddler | ||||||
| Hystrix-like ichthyosis and deafness (HID) syndrome is characterized by ichthyosis, erythrokeratoderma, alopecia and deafness in varying degrees of severity. Dr Sunita Bijarnia-Mahay |
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| Abstract | HTML Full Text | Download PDF |
Clinical Vignette |
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| January to March 2021| Vol 14 | Issue 1 | Page No 10-12 | ||||||
| Lysinuric Protein Intolerance Presenting with Hepatosplenomegaly and Pancytopenia | ||||||
| Lysinuric protein intolerance (LPI) commonly presents with hyperammonemic encephalopathy and failure to thrive. We report a case of a three-and-a-half-year old boy who presented with failure to thrive, recurrent respiratory tract infections, anemia, Dr Suvarna Magar |
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| Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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| January to March 2021| Vol 14 | Issue 1 | Page No 13-20 | ||||||
| Cortical Developmental and Neuronal Migration Disorders: An Overview | ||||||
| Cortical developmental and neuronal migration disorders are a diverse group of disorders that are common causes of neurodevelopmental delay and seizures. Cortical malformations and neuronal migration abnormalities result from molecular disruption Dr Gayatri Nerakh |
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| Abstract | HTML Full Text | Download PDF |
GeNeXprESS |
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| January to March 2021| Vol 14 | Issue 1 | Page No 21-22 | ||||||
| Next-Generation Phenotyping in the Next-Generation Sequencing Era | ||||||
| The authors used a novel algorithm by combining two computer algorithms: the Clinical Face Phenotype Space (CFPS) for facial dysmorphism and OpenFace for facial recognition. Using them, they detected the facial gestalt in three novel intellectual Dr Somya Srivastava |
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| Abstract | HTML Full Text | Download PDF |
Answers to CrossWord - 01 |
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| Click here to see the solution to Crossword - 01 of the previous issue | |||
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Correct Responses to Crossword - 01 were given by:
1. Dr Beena Suresh, Mediscan Systems, Chennai 2. Dr Ravneet Bhatia |
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| View CrossWord |
Announcements |
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1. SIAMG-Genzyme Fellowship Program in Clinical Genetics
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