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Detection of subtelomeric rearrangements in 1180 patients: FISH and MLPA contri...
Mota Freitas, Manuela; Ribeiro, Joana; Candeias, Cristina; Lopes, Elisa; Oliveira, Fernanda Paula; Aguiar, Joaquim; Ribeiro, Maria Céu; Pires, SílviaMental retardation (MR) is a major social, educational, and health problem affecting 3% of the population. Subtelomeric chromosome aberrations are one of the major causes of MR with or without multiple anomalies; previous studies have shown that these rearrangements are responsible for 3-6% of unexplained mental retardation. Between 2000-2010 in the Cytogenetics Unit, Centro de Genética Médica Jacinto de Magal...
Chromosome 1p36 deletion syndrome: a report on 4 cases
Candeias, Cristina; Mota Freitas, Manuela; Ribeiro, Joana; Oliveira, Fernanda Paula; Aguiar, Joaquim; Oliva Teles, Natália; Soares, GabrielaChromosome 1p36 deletion syndrome (MIM #607872) was first described in 1997 by Shapira et al. This condition is compatible with a monosomy of the 1p36 band in the distal region of the short arm of chromosome 1 and is the most common terminal deletion in humans, with an estimated prevalence of approximately 1 in 5,000 live births. This constitutional deletion is associated with mental retardation, developmental...
Large interstitial del(13)(q13q14.3): the importance of detailed clinical infor...
Oliveira, Fernanda Paula; Oliva Teles, Natália; Ribeiro, Joana; Mota Freitas, Manuela; Margarida, Azevedo; Correia, HildebertoInterstitial deletions of chromosome 13 are known to be associated with retinoblastoma. A wider syndrome may accompany the deletion, including mental retardation and craniofacial dysmorphism. The severity of the phenotype depends on the extent of the deletion. Retinoblastoma is a malignant tumor in the retina and is the most common ocular cancer in children. The association of most cases of retinoblastoma with ...
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