Genetic Clinics
GeNeDit
July to September 2021| Vol 14 | Issue 3 | Page No 01
Deciphering Clues to Genotype-Phenotype Correlation
The beginning of the era of mutation detection in clinical practice was very exciting. Some 'lumped' phenotypes got separated while some disorders with great phenotypic similarities were either found to be allelic or disorders sharing a common pathway. One gene and multiple phenotypes was found to be not uncommon. Incomplete penetrance and variable expression did not remain concepts and observations but...
Dr. Shubha Phadke
PhotoQuiz-57
July to September 2021| Vol 14 | Issue 3 | Coverpage
PhotoQuiz 53
This baby, delivered at 20 weeks of gestation, was noted to have significant dysmorphism with joint contractures. The clinical photographs...
Dr Jai Prakash Soni
Clinical Vignette
July to September 2021| Vol 14 | Issue 3 | Page No 02-05
Exome Sequencing Reveals a Novel Homozygous Variant in WDR62 Gene in a Family with Primary Microcephaly
Autosomal recessive primary microcephaly 2 (MCPH2) is a neurodevelopmental disease that causes reduction in brain size. Homozygous or compound heterozygous mutations in the WDR62 gene, located at the chr19q13.12 locus are reported to result in MCPH2. The most common features are reduced skull circumference and intellectual disability with or without cortical malformations. We describe a genetic...
Ikrormi Rungsung, Mahesh Kamate, Ashwin Dalal
GeNeViSTA
July to September 2021| Vol 14 | Issue 3 | Page No 06-13
Challenges of Molecular Analysis of Congenital Adrenal Hyperplasia Caused Due to Steroid 21 Hydroxylase Deficiency
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disorder which results from inherited defects in the steroid 21-hydroxylase enzyme encoded by the CYP21A2 gene. Molecular analysis of CYP21A2 is important for confirming the diagnosis, carrier screening, providing accurate genetic counseling, and calculating risk of recurrence in each pregnancy. An interesting...
Sudhisha Dubey, Renu Saxena, Vinu Narayan, Ratna Dua Puri, Ishwar C Verma
GeNeViSTA
July to September 2021| Vol 14 | Issue 3 | Page No 14-19
Genetic Counseling of Prenatally Detected Sex Chromosome Anomalies
Prenatal screening tests are being universally employed in the current era to identify women at risk of fetal aneuploidies. This unveils a high proportion of unanticipated findings amongst which sex chromosome abnormalities are frequently encountered. It is imperative that geneticists and fetal medicine specialists have sufficient knowledge about these anomalies in order to provide appropriate genetic counseling..
Haseena Sait, Shubha R Phadke
GeNeXprESS
July to September 2021| Vol 14 | Issue 3 | Page No 20
Methylation, Monogenic Disorders and More
The need for accurate gestational age of a neonate need not be stressed. The available methods have limitations in various settings. In this study, the methylation status was studied using reduced representation bisulfite sequencing (RRBS) in DNA extracted from cord blood and placenta. The investigators identified a set of 332 differentially methylated regions (DMRs) that undergo demethylation in late gestational...
Varun Venkatraghavan MS
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