Genetic Clinics

Volume 17 | Issue 1 | January - March 2024

GeNeDit

January - March 2024 | Vol 17 | Issue 1 | Page No 01

Medical Genetics in India: Coming of Age

The Society for Indian Academy of Medical Genetics (SIAMG) was formed in 2012 and is now more than a decade old. Last month the eighth conference of SIAMG (IAMG 2023) was held successfully in New Delhi. The scientific program was excellent and reflected the current areas of research. The posters and oral pres...

Dr Shubha Phadke


PhotoQuiz-63

January - March 2024 | Vol 17 | Issue 1 | Coverpage

This 9-year-old boy was referred for evaluation of short stature and bony deformities. Identify the condition....

Dr Prajnya Ranganath


Clinical Vignette

January - March 2024 | Vol 17 | Issue 1 | Page No 02

An Intriguing Case of Neonatal Diabetes Mellitus

Neonatal diabetes mellitus (NDM) is a rare cause of monogenic diabetes diagnosed usually before 6 months of age. We report a case of permanent NDM in a 4-month-old infant girl who presented with diabetic ketoacidosis. She had a past history of refractory epileptic spasms and developmental delay. Genetic analy...

Jyotsna Padmanabhan1, Shaila S Bhattacharyya1, Bidisha Banerjee2


Clinical Vignette

January - March 2024 | Vol 17 | Issue 1 | Page No 05

Unusual Manifestation of a Rare Disorder: Type XIV Osteogenesis Imperfecta Presenting as Fetal Hydrops

Osteogenesis imperfecta (OI) is a group of inherited disorders characterised by decreased bone density and increased susceptibility to fractures. In addition to the classic COL1A1/ COL1A2- associated autosomal dominant (AD) OI, close to 20 more types have been identified in recent years. Type XIV OI is a very...

Roopadarshini B1, Sreeja P1, Ashwin Dalal2, Prajnya Ranganath1


GeneFocus

January - March 2024 | Vol 17 | Issue 1 | Page No 09

Phenotype First or Genotype First: The Conundrum

Evaluation of patients with suspected genetic disorders as well as gene disease research has predominantly relied on studying the signs and symptoms (phenotyping) of patients or research cohort, followed by doing appropriate genetic tests (genotyping) to diagnose the genetic condition or characterize the caus ...

Divya Agarwal1, Meenakshi Lallar2, Chaitanya Datar3, Koumudi Godbole4


GeNeXprESS

January - March 2024 | Vol 17 | Issue 1 | Page No 13

What Diagnoses Are Missed in Next-Generation Sequencing?

Exome sequencing is quite popular among the clinicians for diagnosis of rare Mendelian disorders but is often non-diagnostic even when we have a strong clinical suspicion of a monogenic disorder. A proportion of them are solved by...

Katta M Girisha


GeneEvent

 

Eighth Annual Conference of the Society for Indian Academy of Medical Genetics (IAMG 2023)


Announcements

Announcements

1. SIAMG Fellowship Program in Prenatal Genetics

2. SIAMG Fellowship Program in Clinical Genetics


Visitors Count:

Powered By: logo