Genetic Clinics
GeNeDit
October - December 2023 | Vol 16 | Issue 4 | Page No 01
Mirror, Mirror on the Wall - Show the Complete Picture to Us All!
The Human Genome Project was an ambitious dream. Reading all our genomes became a reality in 2003! The gaps were filled and now we know the 'telomere to telomere' ATGC sequence of Homo sapiens. Now almost anyone and everyone can get their genome sequenced any time- before birth, at birth or after birth. The p..
Dr Shubha Phadke
PhotoQuiz-62
October - December 2023 | Vol 16 | Issue 4 | Coverpage
This 5-year-old female child born to non-consanguineous parents presented with complaints of bony swellings over the right forearm and right leg noted from 2 years of age. There is no history of pain. Examination revealed limb asymmetry. Skeletal radiographs are attached. Identify the condition....
Dr Haseena Sait
Clinical Vignette
October - December 2023 | Vol 16 | Issue 4 | Page No 03
A Novel Pathogenic Hemizygous Variant of AP1S2 Gene in a Child with Dandy-Walker Malformation, Developmental Delay, and Autism
There is a high degree of genetic and phenotypic heterogeneity for X-linked intellectual disability. Pettigrew syndrome is a rare X-linked syndromic intellectual disorder that presents with hydrocephalus with or without Dandy-Walker malformation (DWM), basal ganglia calcification, developmental delay, autism,...
Gayatri Nerakh
GeNeViSTA
October - December 2023 | Vol 16 | Issue 4 | Page No 08
RNA-based Therapies for Monogenic Disorderd
Monogenic disorders are conditions caused by variants in single genes. The current treatment strategies for monogenic disorders include DNA, RNA, or protein-based therapies. RNA-based therapeutics can be divided into four main categories namely antisense oligonucleotides, RNA interference, aptamers, and messe...
Sheeba Farooqui, Shreya S Shetty
GeNeViSTA
October - December 2023 | Vol 16 | Issue 4 | Page No 14
Validation of MLPA-detected Single Exon Deletion of the DMD Gene by Multiplex PCR
Multiplex ligation-dependent probe amplification (MLPA) is the most widely used technique to detect deletions and duplications of the DMD (dystrophin) gene that constitute two third of the cases of Duchenne (DMD)/ Becker muscular dystrophy (BMD). However, MLPA can yield false positive results for single exon ...
Haseena Sait, Shubha R Phadke
GeNeXprESS
October - December 2023 | Vol 16 | Issue 4 | Page No 20
Optical Genome Mapping and Long Read Sequencing: Mirror of the Genome
This study compared current standard of care (SOC) methods used in clinical cytogenetics (chromosomal microarray, karyotyping, fluorescent in situ hybridization, Southern blot analysis, and PCR) with optical genome mapping (OGM)...
Niladri Das, Sreeja Shankar
