4 documents found, page 1 of 1
Report of a rare 3q29 interstitial microdeletion: prenatal diagnosis and postna...
Simão, Laurentino; Pedro, Sónia; Marques, Bárbara; Serafim, Sílvia; Ferreira, Cristina; Tarelho, Ana; Brito, Filomena; Silva, Marisa; Alves, CristinaDistal interstitial deletions in the 3q29 region are rare. The characterization of new prenatal diagnosis (PND) cases and their follow-up may add knowledge about the affected region.
Deleção intersticial 7q33q34 em fetos de gravidez gemelar monocoriónica diamnió...
Simão, Laurentino; Marques, Bárbara; Ferreira, Cristina; Serafim, Sílvia; Alves, Cristina; Silva, Marisa; Viegas, Mónica; Peliano, RicardoIntrodução: O acompanhamento de gestações gemelares pode revelar-se desafiante se houver alterações ecográficas e discrepâncias entre os fetos. Deleções intersticiais 7q, abrangendo diferentes regiões e apresentando tamanho variável, são raras, e encontram-se quase exclusivamente descritas em pós-natal. Objectivos: Apresentamos o caso de uma gestante, de 32 anos, com gravidez gemelar monocoriónica e diamniótica...
Prenatal diagnosis of Beckwith Wiedemann syndrome: a case report
Ferreira, Cristina; Tarelho, Ana; Marques, Bárbara; Serafim, Sílvia; Pedro, Sónia; Granja, Carla; Mata, Rodrigo; Martins, Ana Teresa; Carvalho, InêsBeckwith-Wiedemann syndrome (BWS) is the most common overgrowth disease. Phenotypically and genetically heterogeneous, it is linked with epigenetic/genetic aberrations on 11p15.4p15.5 chromosome region and the majority of cases are diagnosed after birth with prenatal diagnosis being difficult and depending on the identification of specific ultrasound (US) anomalies. Here we present a case of a fetus from a heal...
15q11.2q13.1 interstitial gain in a fetus with an increased risk for T21: When ...
Serafim, Sílvia; Pedro, Sónia; Marques, Bárbara; Tarelho, Ana; Viegas, Mónica; Simão, Laurentino; Ferreira, Cristina; Carvalho, Inês; Cohen, ÁlvaroIntroduction: Copy number variants (CNV) of the 15q11.2q13.1 region are associated to recurrent microdeletion/microduplication syndromes in which the phenotype is dependent on the parental origin of the CNV. We report the case of a fetus from a healthy 39-year-old G6P3A2 woman, with an increased risk for trisomy 21 in the 1st trimester prenatal screening. Chromosomal microarray analysis (CMA) was requested and ...