AI Article Synopsis
- Partial 17q duplication is a rare chromosome abnormality linked to severe developmental issues, intellectual disabilities, and physical anomalies.
- A case study presented a 7-year-old boy with several health problems, including developmental delays and malformations, and his aborted older brother also exhibited similar abnormalities.
- The findings provide insights into the clinical characteristics and fetal implications of 17q25 microduplication related to a maternal genetic translocation.
Article Abstract
Introduction: Partial 17q duplication is a rare chromosome abnormality. Features include severe psychomotor retardation, intellectual disability, facial dysmorphism, proximal limb shortness, and hyperlaxity of limb joints.
Case Presentation: The proband is a 7-year and 4-month-old boy with developmental delay, facial abnormality, joint laxity and scoliosis, ventriculomegaly, hydrocephalus, hypophosphatemia, and squint, while his older brother is a fetus who was aborted at 33rd week of gestation because of multiple malformations including ventriculomegaly and moderate hydrocephalus. Both siblings have features such as ventriculomegaly and hydrocephalus.
Conclusion: Here, we report 2 sibling cases with 17q25 duplication from a maternal translocation t(14;17). Our findings expanded the clinical spectra and described the fetal phenotype of 17q25 microduplication.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11614436 | PMC |
| http://dx.doi.org/10.1159/000538979 | DOI Listing |
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