Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature

This article reports a patient with a de novo ∼9.32 Mb duplication at 16p13.3 and a ∼71 Kb deletion at 22q13.33. The patient was followed from 1 month old to 3 years and 8 months of age and presented typical features of the 16p13.3 duplication syndrome. In addition, the patient presents a portal cavernoma, an alteration rarely reported in this condition. Renal agenesis was detected as additional developmental defect. After genomic array and FISH analysis, the karyotype was 46,XX,ins(22;16)(q13;p13.2p13.3). ish ins(22;16)(RP11‐35P16+, RP11‐27M24+). arr16p13.2p13.3(85,880‐9,413,353)×3 dn arr22q13.33 (51,140,789‐51,197,838)×1 dn. The authors provide a comprehensive review of the literature. This approach shed light on the genotype‐phenotype correlation. © 2015 Wiley Periodicals, Inc.