Browsing by Author "Sousa, Ana Berta"
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- Análise genómica no Serviço Nacional de Saúde: modelo colaborativo INSA–ULSSM para implementação da análise de variantes patogénicas no exomaPublication . Ferrão, José; Macedo, Catarina; Neto, Lara; Mendonça, Joana; Rangel, Sara; Martiniano, Hugo; Soares, Marta; Custódio, Sónia; Santos, Maria Rosário; Sousa, Ana Cristina; Sousa, Ana Berta; Vieira, Luís
- Koolen-de Vries syndrome – National Case Series with clinical and molecular characterizationPublication . Soares, Marta P.; Rodrigues, Márcia; Dupont, Juliette; Medeira, Ana; Freixo, João; Nunes, Sofia; Cordeiro, Isabel; Travessa, André; Soares, Gabriela; Fortuna, Ana; Ramos, Fabiana; Sá, Joaquim; Rocha, Susana; Figueiredo, Cristina; Mendonça, Carla; Tapadinhas, Fernando; Silveira-Santos, Rosário; Custódio, Sónia; Barreta, Ana; Serafim, Sílvia; Correia, Hildeberto; Val, Mariana; Carreira, Isabel M.; Rendeiro, Paula; Sousa, Ana; Sousa, Ana BertaIntroduction: Koolen-de Vries Syndrome (KdVS) is a rare genetic condition, caused by a 17q21.31 microdeletion, or a pathogenic variant in KANSL1 gene. The clinical picture includes developmental delay (DD)/intellectual disability (ID) with expressive language particularly impaired, dysmorphisms, neonatal hypotonia, and friendly behaviour. Aim: To characterize at the molecular and clinical levels all patients in Portugal diagnosed with KdVS.
- A rare de novo unbalanced complex rearrangement involving chromosomes 12, 18 and 20 in a child with dysmorphic featuresPublication . Alves, Cristina; Marques, Bárbara; Brito, Filomena; Silva, Marisa; Rodrigues, Rosário; Duarte, Guida; Sousa, Ana Berta; Bicho, Anabela; Correia, HildebertoComplex chromosomal rearrangements (CCRs) are rare structural abnormalities that involve three or more breakpoints located on two or more chromosomes and are often associated with developmental delay, mental retardation and congenital anomalies. Here, we report the case of a rare de novo CCR in a girl who was 9 months old when first reported to us. At 15 months old, her clinical features included marked hypotonia, severe psychomotor delay, progressive postnatal microcephaly, strabismus, depressed nasal root, hands and feet malformations, heart defects, recurrent respiratory infections and bilateral hearing deficit still in study. Conventional cytogenetic analysis revealed an unbalanced complex rearrangement, involving chromosomes 12, 18 and 20, and an apparent loss of material of chromosome 18 resulting from an interstitial deletion. Further molecular cytogenetic studies were performed: whole chromosome painting probes for the involved chromosomes and chromosomal comparative genomic hybridization. These studies revealed that apparently no other chromosomes were involved and confirmed a del(18)(q21.1q22) of approximately 17 Mb on the derivative chromosome 18. The latter chromosome also had material from der(12) to der(20) in its constitution. As most CCRs involving chromosome 18q show rearrangements in the q21, some authors argue that this region might be a breakpoint “hotspot”. On the other hand, cases of single deletions on 18q are predominantly terminal. Interstitial deletions are much rarer, and to our knowledge, this is the first report of a CCR with a del(18)(q21.1q22). The phenotype of patients with deletions within this region, reported so far, seems very similar to the one of our patient, and this may contribute to a better understanding of the genotype–phenotype correlation in this type of structural abnormalities.
- The clinical significance of 15q11.2 BP1-BP2 duplications: - Where do we stand?Publication . Serafim, Silvia; Marques, Bárbara; Pedro, Sónia; Brito, Filomena; Dupont, Juliett; Moldovan, Oana; Silveira-Santos, Rosário; Custódio, Sónia; Sousa, Ana; Sousa, Ana Berta; de Sá, Joaquim; Queiroz, M.; Vicente, Lurdes; Correia, HildebertoThe 15q11.2-q13 region has been well characterized, being associated with a range of syndromatic copy number variants (CNVs), and comprises five established break points sites (BP1 to BP5). While the clinical effect for BP1-BP3, BP2-BP3 and BP4-BP5 CNVs is well established, the same cannot be said for BP1-BP2 CNVs. Recently the 15q11.2 BP1-BP2 deletion has been reviewed, emerging as a microdeletion syndrome with low penetrance and variable expressivity being the CNV frequently inherited from a healthy parent. This microdeletion is considered to be a risk factor for several neurodevelopment disorders. For the reciprocal duplication the picture has been less conclusive. Aiming for a better understanding of the clinical significance of this CNV, we collected patients with intellectual disability and/or other clinical features, referred for microarray testing, gathering clinical details for the ones with the duplication. Data was collected from two genetic laboratories. With a total of 1545 patients, we identified eleven carrying the duplication at 15q11.2 BP1-BP2. It was possible to assess inheritance in only four cases, all inherited from a healthy parent. All patients presented intellectual disability,and facial dysmorphism was the second most common feature observed. Microcephaly, autism, congenital abnormalities, dystonia and cataplexy where reported individually. The magnitude of the effect of 15q11.2 duplication remains elusive, and the outcome unclear, posing a major challenge to genetic counseling. Nevertheless, we expect the collection of more of these cases will establish this gain, as it happened with the reciprocal deletion, as a microduplication syndrome with low penetrance and variable expressivity.