Clinical and genetic analysis of a family with 16p11.2 microduplication syndrome and variable multisystem manifestations.
Hai-Lun Huang, An-Kang Zhu, Zi-Yan Xu et al.
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Case in brief
A multigenerational family was studied for 16p11.2 microduplication syndrome, with the proband presenting symptoms including limb muscle pain, exercise intolerance, and chronic gastrointestinal issues. Genetic analysis revealed a 0.8 Mb microduplication at 16p11.2 inherited from the mother. The proband exhibited developmental delay, gastrointestinal dysfunction, and neuromuscular symptoms, while other family members showed varying clinical features, highlighting the syndrome's phenotypic variability.
What made this case unusual
The case emphasizes the significant gastrointestinal motility and neuromuscular manifestations associated with 16p11.2 microduplication, which are less documented in existing literature.
Diagnostic / clinical pearl
Clinicians should be aware of the diverse clinical manifestations of 16p11.2 microduplication syndrome, particularly the potential for gastrointestinal and neuromuscular symptoms.
Why it matters
This case underscores the importance of genetic analysis in understanding the variable expressivity of 16p11.2 microduplication syndrome, which can inform clinical management and family counseling.