Encontrados 4 documentos, a visualizar página 1 de 1
A "de novo" inv dup del(6q) - a case report
Mota Freitas, Manuela; Candeias, Cristina; Oliva Teles, Natália; Soares, Gabriela; Tkachenko, Nataliya; Marques, Bárbara; Correia, HildebertoAbstrat publicado em: Chromosome Research. 2003;21(Suppl 1):S1–S168. doi:10.1007/s10577-013-9364-x
A de novo complex chromosome rearrangement (CCR) involving chromosome 5, 6 and 15
Candeias, Cristina; Mota Freitas, Manuela; Magalhães, Sara; Rocha, Miguel; Marques, Bárbara; Correia, Hildeberto; Oliva Teles, NatáliaAbstrat publicado em: Chromosome Research. 2003;21(Suppl 1):S1–S168. doi:10.1007/s10577-013-9364-x
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...
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