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March 30, 2026Global PediatricsOpen Access

Clinical and Genetic Characteristics of De Novo Tetrasomy 18p in Early Infancy: A Case Report

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Authors

ISIbrahim Y SallaqARAmir Adel Salami RabeiSJSakher Jaradat

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Overview

Case report demonstrates multisystemic effects of tetrasomy 18p in an infant, highlighting need for genetic evaluation.

Key Points

  • To describe the clinical and genetic features of a case with de novo tetrasomy 18p.
  • Case report of a 9.5-month-old male infant
  • Clinical assessment of dysmorphic features and developmental delays
  • Neuroimaging and echocardiography for diagnostic evaluation
  • Chromosomal microarray for genetic analysis
  • Multidisciplinary supportive care including therapies and check-ups.
  • Patient exhibited dysmorphic features, hypotonia, and significant developmental delay
  • Neuroimaging identified agenesis of the corpus callosum
  • Echocardiography showed a tiny muscular ventricular septal defect
  • Chromosomal microarray confirmed a deleterious duplication of 18p
  • Early diagnosis enabled timely supportive interventions.

Cite This Study

Sallaq et al. (2026) studied this question.

synapsesocial.com/papers/69ca12d4883daed6ee0950dchttps://doi.org/10.1016/j.gpeds.2026.100332
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization2019 · 11 citations
  2. 2Diagnosis of tetrasomy 18p using in situ hybridization of a DNA probe to metaphase chromosomes1991 · 9 citations
  3. 3Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals2010 · 88 citations