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June 14, 2026Frontiers in PediatricsOpen Access

1q25.3–q32.1 deletion causing multisystem developmental delay: a case report and literature review

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Authors

LLLifang LiuRYRong Yu张张伟忠

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Overview

Case report highlights genotype–phenotype correlations in a child with 1q25.3–q32.1 deletion, suggesting early diagnosis improves outcomes.

Key Points

  • The study aims to detail a case of a pediatric patient with 1q25.3–q32.1 deletion and analyze related literature to enhance understanding of its clinical implications.
  • Clinical data collected from one case of 1q25.3–q32.1 deletion, including history and clinical examinations.
  • Literature search through PubMed, Embase, and other databases to compile cases and analyze genotype–phenotype associations.
  • Data extraction included clinical characteristics and genetic information from identified case reports.
  • Karyotype revealed a pathogenic 27.0-Mb deletion in the 1q25.3–q32.1 region.
  • Follow-up indicated persistent developmental delays in growth, motor skills, and language acquisition in the subject.
  • Literature review identified 31 cases, noting common features such as intrauterine growth restriction and microcephaly.

Cite This Study

Liu et al. (2026) studied this question.

synapsesocial.com/papers/6a2e4429b1cc60ccdea8a0c2https://doi.org/10.3389/fped.2026.1774631
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