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September 10, 2025Medicine International

Pediatric patient with maturity‑onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report

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Authors

MRMarta Rico‐RodríguezSFSandra FuentesMGM.A. García-Rivera

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Overview

Case report illustrates the complex relationship between MODY5 and 17q12 deletion syndrome, suggesting need for genetic counseling.

Key Points

  • The patient presented with maturity-onset diabetes of the young type 5 alongside 17q12 deletion syndrome, indicating a rare genetic link.
  • Identified through genetic analysis, the de novo deletion affected the patient's HNF1B gene, leading to distinct clinical symptoms.
  • The risk of inheritance for 17q12 deletion syndrome is approximately 50%, necessitating genetic counseling for affected families.
  • Symptoms included hypertransaminasemia and short stature, showcasing the varied impact of chromosomal abnormalities.

Cite This Study

Rico‐Rodríguez et al. (2025) studied this question.

synapsesocial.com/papers/68c1c23d54b1d3bfb60efe3fhttps://doi.org/10.3892/mi.2025.260
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