3 documents found, page 1 of 1
MLPA analysis in a cohort of patients with autism
Peixoto, Sara; Melo, Joana B.; Ferrão, José; Pires, Luís M.; Lavoura, Nuno; Pinto, Marta; Oliveira, Guiomar; Carreira, Isabel M.Background: Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations. Epidemiological studies show an important role of genetic factors in autism and several susceptible regions and genes have been identified. The aim of our study was to validate a cost-effective set of commercial Multiplex Ligation de...
A unique phenotype in a patient with a rare triplication of the 22q11.2 region ...
Vaz, Sara O.; Pires, Renato; Pires, Luís M.; Carreira, Isabel M.; Anjos, Rui; Maciel, Paula; Mota-Vieira, LuisaBackground: The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders. These rearrangements are implicated in syndromes that have some phenotypic resemblances. While the 22q11.2 deletion, also known as DiGeorge/Velocardiofacial syndrome, has common features that include cardiac abnormalities, thym...
Screening of copy number variants in the 22q11.2 region of congenital heart dis...
Pires, Renato; Pires, Luís M.; Vaz, Sara O.; Maciel, Paula; Anjos, Rui; Moniz, Raquel; Branco, Claudia C.; Cabral, Rita; Carreira, Isabel M.Background The rearrangements in the 22q11.2 chromosomal region, responsible for the 22q11.2 deletion and microduplication syndromes, are frequently associated with congenital heart disease (CHD). The present work aimed to identify the genetic basis of CHD in 87 patients from the São Miguel Island, Azores, through the detection of copy number variants (CNVs) in the 22q11.2 region. These structural variants were...