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Volume 15 | Issue 3 | July - September 2022

ISSN : 2454-8774

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GeNeDit
July - September 2022 \| Vol 15 \| Issue 3 \| 01-02
Emotional Burden of Prenatal Screening
Prevention of disorders with significant morbidity and mortality, by prenatal diagnosis, is an acceptable option for most families. It is a boon for families who already have or had a patient with such a disorder and are anxious about the possibility of recurrence. Primary prevention by population-based scree... Dr. Shubha Phadke

PhotoQuiz
July - September 2022 \| Vol 15 \| Issue 3 \| Cover Page
This patient was referred for evaluation of short stature, dysmorphic features and skeletal anomalies....... Dr Prajnya Ranganath

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GeNeMail
July - September 2022 \| Vol 15 \| Issue 3 \| 02 The Crafoord days, April 2022 Dear Editor, We are all quite familiar with the prestigious Nobel Prizes given annually to honor individuals... Dhanya Lakshmi N

Clinical Vignette
July - September 2022 \| Vol 15 \| Issue 3 \| 03-07
A Clinical Report and Further Delineation of the Proximal 8p Deletion - Associated Phenotype
Chromosomal abnormalities are the most common cause of unexplained developmental delay (DD), autism, intellectual disability (ID) and multiple congenital anomalies (MCA). Proximal interstitial deletion of 8p is very rare, and only a few reports have been published till date.Here, we report a 3-years-6 months-... Neha Agrawal, Shubha R Phadke

GeNeViSTA
July - September 2022 \| Vol 15 \| Issue 3 \| 08-11
Variant of Uncertain Significance Identified in Exome Sequencing: What Next
Next-generation sequencing (NGS) has revolutionized the field of medicine, providing better tools for the diagnosis of genetic diseases. However, it has also thrown up new challenges like reporting of variants of uncertain significance (VUSs). All clinicians who order for a test based on NGS are likely to com... Ashwin Dalal

GeNeXprESS
July - September 2022 \| Vol 15 \| Issue 3 \| 12-13 Non-Invasive Prenatal Testing (NIPT) – Utility Beyond Aneuploidies This is the largest cohort study in clinical practice, which aimed to assess the performance of NIPT in 2208 women with singleton... Maitri Jain

GeneFocus
July - September 2022 \| Vol 15 \| Issue 3 \| 14 Gregor Mendel: The 200-Year-Old Monk Who does not know Gregor Mendel, the Austrian Monk of the 19th century? Every day when we look at patients with... Shubha R Phadke

Heart to Heart Talk
July - September 2022 \| Vol 15 \| Issue 3 \| 15 Balancing the Sweetness of the Family Between Monogenic Hypoglycemia and Multifactorial Hyperglycemia A breezy summer morning, a routine day with chiming OPD bells, ever attentive attendants calling out patients' names and patients... Haseena Sait, Shubha R Phadke

OBITUARY
Dr. Alka Venkatesh Ekbote, our very own clinical genetics expert, passed away in the early hours of 30th May 2022 due to a road accident

Announcements
1. 7th Annual Conference of Society for Indian Academy of Medical Genetics
2. SIAMG- Genzyme Fellowship Program in Clinical Genetics
3. SIAMG- Genzyme Fellowship Program in Prenatal Genetics

Published by : Society for Indian Academy of Medical Genetics
Address : Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow-226 014

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