10 documents found, page 1 of 1
Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portugue...
Neves, Ana Raquel; Pais, Ana Sofia; Ferreira, Susana Isabel; Ramos, Vera; Carvalho, Maria João; Estevinho, Alexandra; Matoso, Eunice; Geraldes, FernandaChromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic cases and up to 13% in familial cases. Our aim was to describe the clinical characteristics, cytogenetic and FMR1 testing of a Portuguese population with premature ovarian insuf...
Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portugue...
Neves, Ana Raquel; Pais, Ana Sofia; Ferreira, Susana Isabel; Ramos, Vera; Carvalho, Maria João; Estevinho, Alexandra; Matoso, Eunice; Geraldes, FernandaIntroduction: Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic cases and up to 13% in familial cases. Our aim was to describe the clinical characteristics, cytogenetic and FMR1 testing of a Portuguese population with premature...
Copy number variants prioritization after array-CGH analysis - a cohort of 1000...
Carreira, Isabel Marques; Ferreira, Susana Isabel; Matoso, Eunice; Pires, Luís Miguel; Ferrão, José; Jardim, Ana; Mascarenhas, Alexandra; Pinto, MartaBackground: Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria wh...
Patologia do neurodesenvolvimento por anomalia cromossómica da região crítica d...
Gomes, Sofia; Almeida, Joana; Ferrão, José; Matoso, Eunice; Carreira, Isabel Maria; Oliveira, GuiomarIntrodução: As perturbações do neurodesenvolvimento representam um grupo heterogéneo de doenças crónicas muito frequentes que se iniciam na idade pediátrica. As causas são variadas e numa taxa relevante de casos o diagnóstico etiológico é desconhecido. Nos outros, os rearranjos cromossómicos são as anomalias mais frequentemente identificadas. A região proximal do braço longo do cromossoma 15 (q11-q13), pela sua...
Cromossomopatia com Cariotipo Normal em Linfócitos: Caso Clínico
Saraiva, Jorge M.; Matoso, Eunice; Garcia, Paula; Bento, Gisela; Diogo, Luísa; Marques, IsabelA trissomia 22 em mosaico é uma cromossomopatia particularmente rara de que foram publicados apenas 10 casos, dois dos quais do sexo masculino. Descrevemos o terceiro caso desta situação numa criança de um ano de idade. Referimos as circunstâncias em que um estudo citogenético normal não permite excluir o diagnóstico de cromossomopatia.
Hipocalcemia Neonatal e Baixa Estatura por Delecção em 2411 2
M. Saraiva, Jorge; Matoso, Eunice; Mirante, Alice; Marques, IsabelA delecção em 22q11.2 é responsável por quadros clínicos heterogéneos como os síndromas de DiGeorge e velocardiofacial e algumas cardiopatias congénitas. Neste artigo descreve-se um caso clínico de hipocalcemia neonatal, sem cardiopatia congénita, em que a presença de baixa estatura e de dismorfismos faciais suscitou a pesquisa da delecção em 22q11.2 por hibridação in situ com fluorescência. Confirmou-se a pres...
Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically ...
Ferreira, Susana Isabel; Matoso, Eunice; Venâncio, Margarida; Saraiva, Jorge; Melo, Joana B.; Carreira, Isabel MarquesAbstract Background: Standard cytogenetic analysis has revealed to date more than 30 reported cases presenting interstitial deletions involving region 2q31-q32, but with poorly defined breakpoints. After the postulation of 2q31.2q32.3 deletion as a clinically recognizable disorder, more patients were reported with a critical region proposed and candidate genes pointed out. Results: We report two female patients...
X-chromosome terminal deletion in a female with premature ovarian failure: Hapl...
Ferreira, Susana I.; Matoso, Eunice; Pinto, Marta; Almeida, Joana; Liehr, Thomas; Melo, Joana B.; Carreira, Isabel M.Background: Premature ovarian failure (POF) has repeatedly been associated to X-chromosome deletions. FMR1 gene premutation allele’s carrier women have an increased risk for POF. We intent to determine the cause of POF in a 29 year old female, evaluating both of these situations. Methods: Concomitant analysis of FMR1 gene CGG repeat number and karyotype revealed an X-chromosome terminal deletion. Fluorescence i...
Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv d...
Carreira, Isabel M.; Melo, Joana B.; Rodrigues, Carlos F. D.; Backx, Liesbeth; Vermeesch, Joris; Weise, Anja; Kosyakova, Nadezda; Oliveira, GuiomarBackground: Inverted duplications (inv dup) of a terminal chromosome region are a particular subset of rearrangements that often results in partial tetrasomy or partial trisomy when accompanied by a deleted chromosome. Associated mosaicism could be the consequence of a post-zygotic event or could result from the correction of a trisomic conception. Tetrasomies of distal segments of the chromosome 3q are rare ge...
Partial Tetrasomy of Chromosome 3q and Mosaicism in a Child with Autism
Oliveira, Guiomar; Matoso, Eunice; Vicente, Astrid; Ribeiro, Patricia; Marques, Carla; Ataíde, Assunção; Miguel, Teresa; Saraiva, JorgeIn this report we describe the case of an 11-year-old male with autism and mental retardation, presenting a tetrasomy of chromosome 3q. Cytogenetic analysis showed a mosaic for an unbalanced karyotype consisting of mos46,XY,add(12)(p13.3)(56)/46,XY(45). FISH using WCP and subtelomeric probes identified the extra material on 12p to be an inverted duplication of the distal segment of chromosome 3q. Anomalies in c...