| Full text | |
| Author(s): Show less - |
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
|
| Affiliation: | [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 |
| 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. (AU) | |
| FAPESP's process: | 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes |
| Grantee: | Carla Rosenberg |
| Support Opportunities: | Research Projects - Thematic Grants |
| FAPESP's process: | 12/10071-0 - Genomic study of apparently balanced chromosomal rearrangements in individuals with abnormal phenotype |
| Grantee: | Milena Simioni de Carvalho |
| Support Opportunities: | Scholarships in Brazil - Post-Doctoral |
| 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 Opportunities: | Research Grants - Research in Public Policies for the National Health Care System (PP-SUS) |
| FAPESP's process: | 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center |
| Grantee: | Mayana Zatz |
| Support Opportunities: | Research Grants - Research, Innovation and Dissemination Centers - RIDC |