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Genomic study of apparently balanced chromosomal rearrangements in individuals with abnormal phenotype

Grant number: 12/10071-0
Support type:Scholarships in Brazil - Post-Doctorate
Effective date (Start): October 01, 2012
Effective date (End): September 30, 2015
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal researcher:Vera Lúcia Gil da Silva Lopes
Grantee:Milena Simioni de Carvalho
Home Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil


Balanced chromosomal rearrangements (BCR) occur in approximately 1 in 2000 newborns. The array genomic hybridization (aGH) techniques detected genomic imbalances related or not to chromosome breakpoints in 30 to 50% of BCR cases with abnormal phenotype. Recently, insertions or deletions of few base pairs at breakpoints were identified by Next Generation Sequencing (NGS). The aim of this study is to investigate genomic imbalances, relate or not to breakpoints of rearrangements, in individuals with BCR and abnormal phenotype. Initially, patients from the Clinical Genetics Service of Medical Science Faculty/Unicamp will be studied; individuals from others Brazilian centers of clinical attendance could also be included. As first analyses, cases with BCR detected by karyotype will be investigated using aGH technique. To confirm the results of causative genomic imbalances, FISH analyses will be performed of propositus and, if necessary, of parents as well. When genomic imbalances were not detected, chromosomes microdissection and analyses of theirs sequences by NGS with Illumina Genome Analyzer will be performed in order to investigate base pairs alterations. All laboratorial structure necessary is viable at Unicamp and Brazilian Synchrotron Light Laboratory. Results of this project might be helpful to understand genomic mechanisms involved in abnormal phenotype in individuals with BCR. Also, the use of modern technologies will contribute for the implementation of a new area of research at Medical Genetics Department of MSC/Unicamp.

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Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the 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; MONLLEO, ISABELLA L.; et al. Genotype-Phenotype Correlation of 16p13.3 Terminal Duplication and 22q13.33 Deletion: Natural History of a Patient and Review of the Literature. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 170, n. 3, p. 766-772, . (09/00898-1, 12/51799-6, 12/10071-0, 13/08028-1)
SIMIONI, MILENA; STEINER, CARLOS EDUARDO; GIL-DA-SILVA-LOPES, VERA LUCIA. De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case. Gene, v. 573, n. 1, p. 166-170, . (12/10071-0, 11/23794-7)
SIMIONI, MILENA; ARTIGUENAVE, FRANCOIS; MEYER, VINCENT; SGARDIOLI, ILARIA C.; VIGUETTI-CAMPOS, NILMA L.; MONLLEO, ISABELLA LOPES; MACIEL-GUERRA, ANDREA T.; STEINER, CARLOS E.; GIL-DA-SILVA-LOPES, VERA L.. Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes. MOLECULAR SYNDROMOLOGY, v. 8, n. 4, p. 187-194, . (12/10071-0, 11/23794-7)

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