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Genotype‐phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature
Author(s) -
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.,
GildaSilvaLopes Vera Lúcia
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37494
Subject(s) - gene duplication , phenotype , genotype , comparative genomic hybridization , genetics , biology , karyotype , genotype phenotype distinction , fish <actinopterygii> , gene , chromosome , medicine , fishery
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.