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16p13.11 microduplication with growth retardation and developmental disorders: a case report and literature review

Daisuke Watanabe1, Hideaki Yagasaki1, Hiromune Narusawa1

  • 1Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Japan.

Nagoya Journal of Medical Science
|April 21, 2025
PubMed

Insights

Genetic variations like 16p13.11 microduplication can cause short stature and developmental delay in children. This study highlights the varied symptoms and diagnostic challenges of this genetic condition.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Short stature and growth retardation affect many children, with genetic factors playing a significant role in unexplained cases.
  • Pathogenic copy number variants (CNVs) are identified in 10%-16% of children with unexplained short stature.
  • The 16p13.11 microduplication is a CNV associated with diverse clinical presentations.

Purpose of the Study:

  • To report a case of a Japanese girl with growth retardation and developmental delay linked to a 16p13.11 microduplication.
  • To review existing literature on 16p13.11 microduplication cases to understand genotype-phenotype correlations.
  • To emphasize the diagnostic challenges and the need for comprehensive genetic evaluation.

Main Methods:

  • Case study of a 5-year-old Japanese girl with growth retardation and developmental delay.
  • Genetic analysis to identify the 16p13.11 microduplication in the patient and her mother.
  • Literature review of 274 cases associated with 16p13.11 microduplication.

Main Results:

  • The patient presented with growth retardation and developmental delay due to a 16p13.11 microduplication.
  • Her mother carried the same microduplication but showed no related symptoms, illustrating variable expressivity.
  • Literature review indicated neurological disorders in ~70% and short stature in 15.3% of 16p13.11 microduplication cases.

Conclusions:

  • The 16p13.11 microduplication exhibits diverse phenotypic manifestations, including short stature and developmental delay.
  • Diagnosis is challenging due to variable symptoms and unclear genotype-phenotype relationships.
  • Comprehensive genetic evaluation is essential for children with unexplained short stature and developmental disorders.

Keywords:
16p13.11 microduplicationcopy number variants (CNVs)developmental disordersgrowth retardation

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