Genomic Journey's

Arise of MONGOLIAN SPOTS


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Episode 1 description: In this episode, we explore a rare genetic condition from the article

“Atypical Features in a Neonate with de novo 17p11.2p13.2 Duplication Syndrome - A Case

Report” by Shravan Kumar Katam et al., published in the Annals of Genetics and Genetic

Disorders (November 2021). The case involves a neonate with a unique chromosomal

duplication. We discuss the clinical presentation and genetic insights for managing rare

congenital disorders. Tune in to learn how advances in genetics are transforming neonatal care.

Listeners will gain valuable insights into the role of genetic research in diagnosing complex

conditions.

Article link 🔗 https://www.remedypublications.com/annals-of-genetics-genetic-disorders-abstract.php?aid=8252

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Genomic Journey'sBy Saif Devnale & Kunal Moharwal