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

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

  • By

  • Lifang Liu

  • Rong Yu

  • Weizhong Zhang

  • Shiwen Huang

  • Taiwei Huang

  • June 10, 2026

  • 0 min

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  • 1

    A male newborn with a 1q25.3–q32.1 deletion exhibited intrauterine growth restriction and developmental delays.

  • 2

    Karyotype analysis confirmed a pathogenic 27.0-Mb deletion in the 1q25.3–q32.1 region associated with various clinical features.

  • 3

    Common clinical manifestations of 1q25–q32 deletion syndrome include microcephaly, facial dysmorphism, and neurodevelopmental delays.

  • 4

    Key genes in the deleted region, such as CENPL and LHX4, are linked to the observed phenotypic characteristics.

  • 5

    Early chromosomal microarray analysis is recommended for diagnosis and individualized intervention to improve patient outcomes.

Original Source(s)

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

  • by Lifang Liu, Rong Yu, Weizhong Zhang, Shiwen Huang, Taiwei Huang

  • June 10, 2026

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