A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature

Background Distal chromosome 16 duplication syndrome (also known as 16q partial trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy is generally associated with a multisystemic phenotype including intrauterine growth restriction (IUGR), brain and cardiac defects, intellectual disability (ID) and an increased risk of both prenatal and postnatal lethality. Smaller copy number variants (CNV) within the 16q region create partial trisomies, which occur less frequently than full trisomy 16q. Case presentation We present the clinical case of a 12-years-old male with a 16q22.3q24.1 de novo heterozygous duplication whose phenotype was characterized by ID, facial dysmorphisms, stature and weight overgrowth. To date, only five other cases of this syndrome have been reported in scientific literature, and none of them comprised overgrowth. Conclusions Our case report highlights the great heterogeneity in clinical manifestations and provides new evidence for better defining the phenotypic picture for smaller 16q distal CNVs, suggesting unusual features.

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A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature

Cited by 2 publications

References 52 publications

The predictive value of prenatal cell-free DNA testing for rare autosomal trisomies: a systematic review and meta-analysis

The predictive value of prenatal cell-free DNA testing for rare autosomal trisomies: a systematic review and meta-analysis

A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

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