Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

A family with six alive patients with partial monosomy 5p and five with partial trisomy 5p due to a t(5;15)(p13.3;p12) translocation is reported. the translocation was present in four generations with eight balanced carriers. This is the first molecular-cytogenetic and clinical study with both syndromes present in the same family. Using fluorescence in situ hybridization (FISH) with bacterial artificial chromosome (BAC) probes, the breakpoint was mapped to 5p13.3, in the interval corresponding to the BAC clone RP11-1079N14, thereof resulting a 5pter-5p13.3 deletion or duplication of similar to 32 Mb. These chromosome imbalances can be considered pure, since the other imbalance produced involving chromosome 15p has no phenotypic effect. the presence of several individuals with 5p monosomy and 5p trisomy in the same family is valuable for a better delineation of both syndromes.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Universidade Federal de São Paulo, Dept Morphol & Genet, BR-04023900 São Paulo, BrazilCtr Genet & Mol Biol, DNA Lab, Salvador, BrazilUniv Fed Bahia, Dept Pediat, Salvador, BrazilUniversidade Federal de São Paulo, Dept Morphol & Genet, BR-04023900 São Paulo, BrazilWeb of Scienc

Trisomy 16q21 -> qter: Seven-Year Follow-Up of a Girl With Unusually Long Survival

The 16q21 -> qter duplication is a chromosomal abnormality rarely found in liveborn infants, with only four published cases. We report here on the 7-year follow-up of a female patient with trisomy 16q21 -> qter due to a maternal balanced translocation t(4;16)(q35.2;q21). the patient shows severe mental retardation, congenital heart malformations, nephropathy, and other congenital anomalies. the derivative chromosome was characterized by GTG banding, fluorescent in situ hybridization (FISH) with different BAG probes and the array technique, in order to map the breakpoints. the patient has a 16q21 -> qter duplication, with a 4q35 -> qter monosomy, which we assume does not contribute to the abnormal phenotype. This is the first reported case of postnatal survival to the age of 7 years, an unusually long time in this chromosomal syndrome. (C) 2010 Wiley-Liss, Inc.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Univ Fed Bahia, Dept Gen Biol, Lab Human Genet & Mutagenesis, Salvador, BA, BrazilUniversidade Federal de São Paulo, Dept Morphol & Genet, São Paulo, BrazilServac, Med Serv & Vaccinat, Salvador, BA, BrazilUniversidade Federal de São Paulo, Dept Psychobiol, Microarrays Lab, São Paulo, BrazilUniv Fed Bahia, Dept Pediat, Salvador, BA, BrazilUniv São Paulo, Dept Pathol, LIM 03, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Morphol & Genet, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Psychobiol, Microarrays Lab, São Paulo, BrazilWeb of Scienc

Spinocerebellar Ataxias in Brazil-Frequencies and Modulating Effects of Related Genes

This study describes the frequency of spinocerebellar ataxias and of CAG repeats range in different geographical regions of Brazil, and explores the hypothetical role of normal CAG repeats at ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7 genes on age at onset and on neurological findings. Patients with symptoms and family history compatible with a SCA were recruited in 11 cities of the country; clinical data and DNA samples were collected. Capillary electrophoresis was performed to detect CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17, and DRPLA associated genes, and a repeat primed PCR was used to detect ATTCT expansions at SCA10 gene. Five hundred forty-four patients (359 families) were included. There were 214 SCA3/MJD families (59.6 %), 28 SCA2 (7.8 %), 20 SCA7 (5.6 %), 15 SCA1 (4.2 %), 12 SCA10 (3.3 %), 5 SCA6 (1.4 %), and 65 families without a molecular diagnosis (18.1 %). Divergent rates of SCA3/MJD, SCA2, and SCA7 were seen in regions with different ethnic backgrounds. 64.7 % of our SCA10 patients presented seizures. Among SCA2 patients, longer ATXN3 CAG alleles were associated with earlier ages at onset (p<0.036, linear regression). A portrait of SCAs in Brazil was obtained, where variation in frequencies seemed to parallel ethnic differences. New potential interactions between some SCA-related genes were presented.FAPERGSConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)INAGEMPFIPE-HCPAHosp Clin Porto Alegre, Med Genet Serv, BR-90035903 Porto Alegre, RS, BrazilHosp Clin Porto Alegre, Lab Genet Identificat, BR-90035903 Porto Alegre, RS, BrazilUniversidade Federal de São Paulo, UNIFESP Escola Paulista Med, Disciplina Neurol Clin, Setor Neurol Geral & Ataxias, São Paulo, BrazilDisciplina Neurol Santa Casa São Paulo, São Paulo, BrazilUniv Fed Estado Rio de Janeiro, Rio de Janeiro, BrazilUniv Fed Rio de Janeiro, Postgrad Program, Rio de Janeiro, BrazilInst Nacl Canc, Genet Counseling Program, Rio de Janeiro, BrazilUniv Fed Rio Grande do Norte, BR-59072970 Natal, RN, BrazilFed Univ Para, Inst Ciencias Biol, Lab Erros Inatos Metab, BR-66059 Belem, Para, BrazilUniv Fed Bahia, Salvador, BA, BrazilUniv Estadual Paraiba, Campina Grande, BrazilCtr Reabilitacao Dr Henrique Santillo, Goiania, Go, BrazilAPAE Vitoria, Espirito Santo, BrazilUniv Fed Campina Grande, Paraiba, BrazilUniv Fed Santa Catarina, Florianopolis, SC, BrazilAssoc Cearense Doencas Genet, Fortaleza, Ceara, BrazilUniv Fed Rio Grande do Sul, Dept Internal Med, Porto Alegre, RS, BrazilUniv Fed Rio Grande do Sul, Postgrad Program Med Sci, Porto Alegre, RS, BrazilUniv Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, Porto Alegre, RS, BrazilInst Nacl Genet Med Populac INAGEMP, Porto Alegre, RS, BrazilUniversidade Federal de São Paulo, UNIFESP Escola Paulista Med, Disciplina Neurol Clin, Setor Neurol Geral & Ataxias, São Paulo, BrazilWeb of Scienc