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Type: Artigo de Periódico
Title: Genotype-phenotype Correlation Of 16p13.3 Terminal Duplication And 22q13.33 Deletion: Natural History Of A Patient And Review Of The Literature
Author: Fontes
MIB; Santos
AP; Molck
MC; Simioni
M; Nascimento
DLL; Andrade
AKM; Rosenberg
C; Krepischi
ACV; Appenzeller
S; Monlleo
IL; Gil-Da-Silva-Lopes
Abstract: This article reports a patient with a de novo similar to 9.32 Mb duplication at 16p13.3 and a similar to 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) x3 dn arr22q13.33 (51,140,789-51,197,838) x 1 dn. The authors provide a comprehensive review of the literature. This approach shed light on the genotype-phenotype correlation. (c) 2015 Wiley Periodicals, Inc.
Subject: 16p13.3 Duplication
22q13.33 Deletion
Congenital Defects
Genotype-phenotype Correlation
Citation: American Journal Of Medical Genetics Part A. WILEY-BLACKWELL, n. 170, n. 3, p. 766 - 772.
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.37494
Date Issue: 2016
Appears in Collections:Unicamp - Artigos e Outros Documentos

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