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November 20, 2025Open Access

Expanding the Clinical Spectrum of De Novo 19p13.3 Microdeletion: A Case Report

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Authors

EGElvio Della Giustina

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Overview

Case report identifies unique clinical features of de novo 19p13.3 microdeletion with neurodevelopmental disorders, suggesting further implications for diagnosis.

Key Points

  • Impaired fine motor skills and ideomotor dyspraxia were observed in the young male patient, indicating significant functional impairment.
  • Neuroimaging revealed lateral ventricular dilatation and corpus callosum thinning in the patient, with implications for future diagnoses.
  • Assessment of clinical features highlighted the unique symptoms associated with the copy number variant on chromosome 19.
  • Findings may enhance the understanding of neurodevelopmental disorders related to congenital anomalies.

Cite This Study

Elvio Della Giustina (2025) studied this question.

synapsesocial.com/papers/6924f084c0ce034ddc350417https://doi.org/10.46889/jpar.2025.4308
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Clinical manifestations of chromosome 19p13.11 duplication2026
  2. 2Clinical and molecular characterization of 18p deletion syndrome and a novel case with reproductive disorder2026
  3. 3Clinical and genetic characteristics of De Novo Tetrasomy 18p in early infancy: A case report2026
  4. 4Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder2024
  5. 5Subtelomeric microdeletion in chromosome 20p13 associated with short stature2024 · 2 citations