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February 21, 2026Case Reports in GeneticsOpen Access

A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro‐Costo‐Mandibular Syndrome

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Authors

ESElizabeth SlearCTClaire ThompsonVRVirginia Ruas

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Overview

A unique case reports concurrent SNRPB mutation and 22q11.2 microduplication in an infant, suggesting significant health implications.

Key Points

  • Investigate the relationship between SNRPB mutations and 22q11.2 microduplications in a case of CCMS.
  • Case report of an infant with CCMS and both genetic abnormalities.
  • Genetic testing for SNRPB mutations.
  • Chromosomal analysis to identify 22q11.2 microduplication.
  • Identified SNRPB mutation linked to CCMS symptoms.
  • Confirmed presence of 22q11.2 microduplication in the patient.
  • This case may represent the first documented instance of these concurrent conditions.

Cite This Study

Slear et al. (2026) studied this question.

synapsesocial.com/papers/69994c6f873532290d020f32https://doi.org/10.1155/crig/4169170
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