ArticleMolecular syndromology2014
A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay.
Article in Molecular syndromology, 2014. 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, 9 citations in OpenAlex.
- Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing.Journal of human genetics · 2026Article
- Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview.Molecular cytogenetics · 2022Article
- PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly.Science advances · 2020Article
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4 authors at 1 institution in 1 country.
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Abstract
We report a 12-year-old boy referred to the Clinical Genetics service in view of facial dysmorphism, learning difficulties and autistic spectrum disorder. 60K arrayCGH revealed an 8.2-Mb duplication on chromosome 13q31.3q32.3, which was paternally inherited. This specific duplication on chromosome 13 has not been previously reported in the medical literature, and there are no familial or de novo patients with the same duplication breakpoints. This region contains 24 OMIM genes, including the glypicans GPC5 and GPC6, and the ZIC2 gene. We discuss the relevance of this chromosome imbalance and discuss the impact of this duplication on our patient's phenotype. Given that the duplication on 13q was paternally inherited, and although initially thought to be of uncertain significance, on exploring the family history further, it became apparent that the father had learning difficulties as a child and previous surgery for congenital diaphragmatic hernia. Here we explore the phenotype in association with this novel duplication on chromosome 13q and add to the existing literature on array findings within this region.
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