Genotype‐phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature. Issue 3 (7th December 2015)

• Record Type: Journal Article
• Authors: Fontes, Marshall I. B.; Santos, Ana P.; Molck, Miriam C.; Simioni, Milena; Nascimento, Diogo L. L.; Andrade, Ana K. M.; Rosenberg, Carla; Krepischi, Ana C. V.; Appenzeller, Simone; Monlleó, Isabella L.; Gil‐da‐Silva‐Lopes, Vera Lúcia
• Is Part Of: American journal of medical genetics. Volume 170:Issue 3(2016)
• Page Start: 766
• Page End: 772
• Publication Date: 2015-12-07
• Subjects: 16p13.3 duplication -- 22q13.33 deletion -- array‐GH -- congenital defects -- genotype‐phenotype correlation -- microarray -- translocation; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37494
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : 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.