35 documents found, page 1 of 4
Multiple non contiguous copy gains and a terminal loss in 8q24 identified in a ...
Serafim, S.; Pedro, S.; Marques, B.; Tarelho, A.R.; Ferreira, C.; Simao, L.; Viegas, M.; Silva, M.; Alves, C.; Mourinha, V.; Ferreira, A.; Correia, H.Objectives: Chromosomal microarray analysis (CMA) is the recommended genetic test in pregnancies with ultrasound abnormalities but in some cases karyotype may still be needed to clarify the underlying mechanism of complex rearrangements. Here we report the case of a fetus from a healthy 24-year-old G1P0 woman, with a low risk for common aneuploidies in the 1st trimester prenatal screening but referred for CMA a...
Crack tip mechanisms: a numerical analysis
Antunes, F. V.; Borges, M. F. M.; Marques, B.; Prates, P.; Branco, R.Fatigue crack propagation is usually studied using da/dN-∆K curves obtained experimentally. However, the use of ∆K does not provide any information into the mechanics which occur at the crack tip and are effectively responsible for fatigue crack growth. The objective here is to study crack tip phenomena using the CTOD. The aspects studied are the crack closure level, the elastic regime of ∆K and the crack tip p...
Prenatal diagnosis of mosaic ring chromosome 16 - a rare event with uncertain p...
Brito, F.; M. Silv, M.; Alves, C.; Ferreira, C.; Serafim, S.; Simão, L.; Marques, B.; Pedro, S.; Tarelho, A.; Furtado, J.; Lopes, P.; Silva, N.Ring chromosomes are rare cytogenetic findings (prenatal frequency ~ 0.0075%) often associated with an abnormal phenotype, depending of the chromosomal origin, genetic content and the presence of a mosaic. Supernumerary ring chromosome 16 [r(16)] is rarely observed and mosaicism makes the genotype/phenotype correlation difficult. We report a de novo mosaic r(16) detected after prenatal diagnosis in a woman refe...
47,XY,+del(X)(q21.31)/46,XY mosaicism in prenatal diagnosis - case report of a ...
Ferreira, C.; Tarelho, A.; Marques, B.; Serafim, S.; Pedro, S.; Ferreira, A.; Correia, H.OBJECTIVES: Aneuploidies involving the sex chromosomes are the most common anomalies in humans. In many cases these anomalies are present in mosaic and may involve either the whole chromosome or just part of it. These anomalies constitute a challenge in prenatal diagnosis because it is generally very difficult to establish a reliable genotype-phenotype correlation. Here we report a rare event of a mosaic in whi...
Diagnóstico pré-natal tardio de uma gestação com anomalias ecográficas e com du...
Simão, L.; Serafim, S.; Ferreira, C.; Alves, C.; Brito, F.; Silva, M.; Furtado, J.; Viegas, M.; Pedro, S.; Marques, B.; Rodrigues, M.; Sá, J.Introdução: O diagnóstico pré-natal (DPN) atempado de anomalias cromossómicas em fetos com anomalias ecográficas é fundamental no prognóstico da gravidez, ou na sua possível interrupção. Assim, a realização das ecografias fetais nas semanas preconizadas é determinante para a gestão dos casos anormais. Descrevemos um caso de uma gravidez mal vigiada, com ecografia fetal realizada às 29 semanas de gestação, onde ...
Age-dependency of the prognostic impact of tumor genomics in localized resectab...
Ambros, I.M.; Tonini, G.P.; Gross, N.; Mosseri, V.; Pötschger, U.; Beiske, K.; Berbegall, A.P.; Bénard, J.; Bown, N.; Caron, H.; Combaret, V.BACKGROUND: Biology based treatment reduction, i.e. surgery alone also in case of not totally resected tumors, was advised in neuroblastoma patients with localized resectable disease without MYCN amplification. However, whether the genomic background of these tumors may influence outcome was unknown and therefore scrutinized in a meta-analysis comprising two prospective therapy studies and a ‘validation’ cohort...
Prenatal diagnosis of 7q11.23 duplication in a fetus with renal pelvic dilatati...
Serafim, S.; Ferreira, C.; Simão, L.; Alves, C.; Brito, F.; Silva, M.; Furtado, J.; Viegas, M.; Pedro, S.; Marques, B.; Rodrigues, M.; Sá, J.7q11.23 duplication syndrome is a multisystemic developmental disorder characterized by variable manifestations, such as speech delay, mild craniofacial anomalies with distinctive facial features, and intellectual ability ranging from mental retardation to normal cognitive development. Approximately 30% of individuals with 7q11.23 duplication have one or more congenital anomalies. Penetrance is complete with va...
Mudanças no diagnóstico pré-natal cromossómico: indicações clínicas, amostras b...
Simão, L.; Silva, M.; Alves, C.; Brito, F.; Serafim, S.; Ambrósio, P.; Geraldes, M.C.; Marques, B.; Ferreira, C.; Pedro, S.; Furtado, J.; Ventura, C.Introdução: As mudanças no diagnóstico pré-natal de anomalias cromossómicas (DPN) nos últimos 10-15 anos foram contínuas e significativas. Objetivos: Propômo-nos analisar essa evolução: mudanças nas indicações clínicas; introdução das biópsias de vilosidades coriónicas (BVC); utilização do diagnóstico rápido de aneuploidias (DRA); estudos por microarray; alterações cromossómicas encontradas. Metodologia: Fez-se...
Very late presentation of a disorder of sex development
Martins, J.M.; Fraga, M.; Miguens, J.; Tortosa, F.; Marques, B.; Sousa, A.D.Disorders of sex development generally present in the neonatal period with ambiguity of external genitalia. We report a very old male patient presenting at 75 years because of panhypopituitarism and a large nonsecreting pituitary macroadenoma secondary to long-standing primary hypogonadism due to 46,XX sex reversal disorder now first diagnosed. Sex development disorders may go unrecognised for the entire life s...
KBG Syndrome: a de novo chromosomal rearrangement in prenatal diagnosis beyond ...
Carvalho, I.; Freixo, J.P.; Cruz, J.; Oliveira, N.; Marques, B.; Correia, H.; Morton, C.; David, D.Introduction: KBG syndrome (OMIM #148050) is a rare disorder characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal anomalies, short stature and developmental delay. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Although this is an autosomal dominant condition p...