Genetic Clinics
GeNeDit
October - December 2024 | Vol 17 | Issue 4 | 01-02
Genetics, Genomics and Clinical Geneticists: What's ahead?
As one walks towards the horizon, distant pictures start becoming clearer while new blurred images appear on the horizon. We need to walk further to get a clearer view of them. Same thing happens in genetic diagnostics. The techniques to evaluate genes and the genome have improved greatly but one investigatio...
Dr. Shubha Phadke
PhotoQuiz
October - December 2024 | Vol 17 | Issue 4 | Cover Page
This 2-year-old male child, born of third-degree consanguineous marriage, presented with coarse facies, gingival hypertrophy, multiple nodular swellings over the scalp and lumbosacral region, pearly papules of the neck and perianal region, and contractures of the large and small joints. Identify the conditi...
Dr. Haseena Sait
Clinical Vignette
October - December 2024 | Vol 17 | Issue 4 | 03-08
Bohring-Opitz Syndrome: Report of a Patient with a Novel Variant in the ASXL1 Gene and Review of Literature
Bohring-Opitz Syndrome (BOS) is a very rare genetic disorder with multiple anomalies caused by heterozygous pathogenic variants in the ASXL1 gene. The child reported here had the classic presentation of BOS due to a novel pathogenic variant in the ASXL1 gene....
Roopa Kunthavai Chellappa 1, Santhosh Govindarajulu 2, Venkatesh Chellappa 3
GeNeViSTA
October - December 2024 | Vol 17 | Issue 4 | 17-23
Genetics of Neonatal Diabetes: An Update
Neonatal diabetes mellitus (NDM) is defined as persistent hyperglycemia in infants within the first six months of life or rarely within one year of life, along with absent or insufficient circulating insulin. It can be either transient or permanent diabetes, depending on the duration of insulin requirement. T...
Aysha Kabeer, Sankar VH
GeNeXprESS
October - December 2024 | Vol 17 | Issue 4 | 24-25
Novel Tools for Detecting Structural Variants: Optical Genome Mapping and More
Genomic inversions, segments of DNA with reversed orientation compared to the reference genome, are prevalent in human populations and vary in size. Traditional karyotyping can detect these inversions but typically misses those smaller than 10 Mb. Despite...
Saswati Das
