ArticleAmerican journal of translational research2022
A familial 3q28q29 duplication induced mild intellectual disability: case presentation and literature review.
Article in American journal of translational research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 5 citations in OpenAlex.
- Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.American journal of medical genetics. Part A · 2025Article
- Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders.Molecular syndromology · 2025Article
- The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype.Frontiers in neuroscience · 2023Review
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
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Abstract
The 3q29 duplication syndrome is an uncommon imbalanced chromosomal disorder with highly variable manifestations, mainly characterized by a mild mental anomaly, eye abnormalities, and developmental delay. Only a few such cases have been reported with significant phenotypic heterogeneity. Here, we reported a case with familial 3q28q29 duplication that was 8.5 Mb in length, covering all fragments from previous reports. A series of genetic detection techniques, including karyotyping, chromosomal microarray, and fluorescence in situ hybridization, demonstrated that the rearrangement, in this case, was due to a three-chromosome translocation of the paternal grandmother of the fetus. Interestingly, only mild intellectual disability in the father and slightly thick nuchal translucency (NT) in the fetus were observed. The fetus was delivered at term and showed normal developmental milestones. Our study increased the understanding of this syndrome and highlighted the necessity and importance of the rational use of multiple genetic techniques in prenatal diagnosis.
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35422908PMC8991147W4226437222What OpenQuestion holds
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