| E-mail ID : info@iamg.in |
| E-mail ID : info@iamg.in |
Online Submission |
| Click Here For Online Submission |
| Instructions for authors |
Genetic Clinics |
| Editorial board |
Get Our Newsletter |
| Subscribe |
Send Your Feedback |
| Feedback Form |
About Us |
| IAMG |
Volume 17 | Issue 2 | April - June 2024 |
| Download Complete Issue |
| View Complete Issue |
GeNeDit |
|||
| April - June 2024 | Vol 17 | Issue 2 | Page No 01 | |||
| Advanced Approaches for Rare Diseases | |||
| Throughout history, humanity has grappled with various diseases, each presenting unique challenges. As medical advancements continue to evolve, our focus shifts accordingly. Thanks to breakthroughs in vaccines and antibiotics, we have triumphed over several infectious diseases and continue to combat others... Dr Ashwin Dalal |
|||
| HTML Full Text | Download PDF |
| PhotoQuiz-64 | ||||
| April - June 2024 | Vol 17 | Issue 2 | Coverpage | ||||
| This child was referred for evaluation of global developmental delay and a chronic skin disorder. Abnormalities noted in the MRI brain images (T2-weighted coronal and sagittal sections) are highlighted with arrows. Identify the condition....
Dr Sunita Bijarnia-Mahay |
||||
| View PhotoQuiz | Send Answer |
Clinical Vignette |
||||||
| April - June 2024 | Vol 17 | Issue 2 | Page No 02 | ||||||
| Superoxide Dismutase Deficiency due to Biallelic SOD1 Variants | ||||||
| Gain-of-function mutations in superoxide dismutase 1 (SOD1) are typically associated with familial Amyotrophic lateral sclerosis (ALS). Recently a distinct neurodegenerative disorder has been described, occurring due to biallelic loss of function in SOD1, manifesting as spastic tetraplegia with axial hypotonia in childhood. Debate exists regarding its classification, as to whether it is a distinct disorder or a part of the ALS spectrum.
... Pallavi Sinha1, Sunita Bijarnia-Mahay1, Hemlata Wadhwani Bhatia2, Saurabh Chopra3 |
||||||
| Abstract | HTML Full Text | Download PDF |
Clinical Vignette |
||||||
| April - June 2024 | Vol 17 | Issue 2 | Page No 05 | ||||||
| Midgut Volvulus in Trisomy 21: Unveiled on Fetal Autopsy | ||||||
| Midgut volvulus is a rare developmental anomaly with a largely unknown etiology that is challenging to diagnose antenatally in the second trimester. The objective of this case report is to describe a rare case of midgut volvulus associated with trisomy 21. Amniocentesis was done in a 19-week fetus with severe ventriculomegaly, hypoplastic cerebellum, echogenic bowel, and growth restriction to rule out chromosomal... Somya Srivastava, Shubha R Phadke |
||||||
| Abstract | HTML Full Text | Download PDF |
Clinical Vignette |
||||||
| April - June 2024 | Vol 17 | Issue 2 | Page No 08 | ||||||
| Tyrosine Hydroxylase Deficiency: Report of a Novel Phenotype | ||||||
| Dopamine-responsive dystonia is a rare disorder. The clinical diagnosis is usually made based on the response to levodopa. It is a conglomerate of three enzymatic deficiencies: guanosine triphosphate cyclohydrolase 1, sepiapterin reductase and tyrosine hydroxylase. All of these have some classical presentations and variability in the time of onset and severity, but dystonia and diurnal variation of symptoms... Sunil Taneja |
||||||
| Abstract | HTML Full Text | Download PDF |
GeNeXprESS |
|||||
| April - June 2024 | Vol 17 | Issue 2 | Page No 10 | |||||
| High Throughput Functional Assay Platforms to Screen Multiple Variants | |||||
| Technological advances have led to the development of high-throughput sequencing platforms enabling human genome sequencing to be used in clinical practice. Several genomic variants are being identified across individuals of diverse populations, using high-throughput... Ch Neeraja, Ashwin Dalal |
|||||
| Full Text | Download PDF |
HearToHearTalk |
|||||
| The Boon Becomes the Bane: The Ballad of the Blue-eyed Boy | |||||
|
Beauty lies in the eyes of the beholder. However, beauty can also literally be due to a person's eyes, especially the eye colour. In South India, the population generally has black-coloured irises and hence, a different hue, especially blue or green, is a matter of great pride and wonder... Remya Rajkumar, Sankar VH |
|||||
| View |
Obituary |
|||||
| Obituary | |||||
| In Memory of Dr I C Verma | |||||
| View |
GeNeEvent |
|||||
| GeNeEvent | |||||
| Rare Disease Day Related Events at Different Centres Across India National Symposium on Rare Diseases Down Syndrome Day Celebrations | |||||
| View |
Announcements |
|||||
| Announcements | |||||
| Twenty-First ICMR Course on Medical Genetics and Genetic Counseling | |||||
| Download PDF |