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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Genotype-Phenotype Correlation of 16p13.3 Terminal Duplication and 22q13.33 Deletion: Natural History of a Patient and Review of the Literature

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Fontes, Marshall I. B. [1, 2] ; Santos, Ana P. [1] ; Molck, Miriam C. [1] ; Simioni, Milena [1] ; Nascimento, Diogo L. L. [2] ; Andrade, Ana K. M. [3] ; Rosenberg, Carla [4] ; Krepischi, Ana C. V. [4] ; Appenzeller, Simone [5] ; Monlleo, Isabella L. [3] ; Gil-da-Silva-Lopes, Vera Lucia [1]
Total Authors: 11
[1] Univ Estadual Campinas, Fac Med Sci, Dept Med Genet, BR-13083887 Campinas, SP - Brazil
[2] State Univ Hlth Sci Alagoas, Med Genet Sect, Maceio, Alagoas - Brazil
[3] Fed Univ Alagoas UFAL, Univ Hosp, Fac Med, Clin Genet Serv, Maceio, Alagoas - Brazil
[4] Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Sao Paulo, SP - Brazil
[5] Univ Estadual Campinas, Fac Med Sci, Dept Clin Med, BR-13083887 Campinas, SP - Brazil
Total Affiliations: 5
Document type: Journal article
Source: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 170, n. 3, p. 766-772, MAR 2016.
Web of Science Citations: 3

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. (AU)

FAPESP's process: 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes
Grantee:Carla Rosenberg
Support type: Research Projects - Thematic Grants
FAPESP's process: 12/51799-6 - Consolidation of a multicentric strategy in genetics for database and diagnostic on orofacial clefts
Grantee:Vera Lúcia Gil da Silva Lopes
Support type: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)
FAPESP's process: 12/10071-0 - Genomic study of apparently balanced chromosomal rearrangements in individuals with abnormal phenotype
Grantee:Milena Simioni de Carvalho
Support type: Scholarships in Brazil - Post-Doctorate
FAPESP's process: 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center
Grantee:Mayana Zatz
Support type: Research Grants - Research, Innovation and Dissemination Centers - RIDC