4 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...
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...