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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
A case of de novo complex chromosomal abnormality involving a t(8;10) and an in...
Oliva Teles, Natália; Pires, Silvia; Aguiar, Joaquim; Mota Freitas, Manuela; Marques, Bárbara; Correia, Hildeberto; Sales Marques, Jorge; Furtuna, AnaInterstitial deletions of the long arm of chromosome 5 involving the region 5q33.1-q34 are rare occurrences. The clinical features of patients carrying similar deletions include dysmorphic facial features, such as epicanthus, retrognatia, protruding left ear and asymmetric mouth, high-arched palate, four inger lines and clinodactyly of digits II and V on both hands. We report on a female child aged 13 presentin...
Três rearranjos diferentes, três fenótipos diferentes :Estudo Familiar Cromosso...
Lopes, Elisa; Silva, Isaltina; Mota Freitas, Manuela; Oliva Teles, Natalia; Fortuna, Ana; Correia, Hildeberto; Fonseca e Silva ML 1., Maria da LuzIntrodução – Cromossomas derivativos são o resultado de rearranjos estruturais que tanto podem ocorrer num só, como entre dois ou mais cromossomas. Estes rearranjos dão origem a cromossomas estruturalmente anormais, podendo resultar um fenótipo normal ou mais ou menos grave, dependendo do tipo de anomalia encontrada. Materiais e métodos – Caso índex: homem de 55 anos, referenciado para estudos de citogenética c...
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...
Prenatal diagnosis of a partial dup (16p) due to a rare recombinant resulting f...
Pires, Sílvia; Fonseca Silva, Maria da Luz; Rosa Pereira, Ana; Meireles, Alexandra; Oliva Teles, Natália; Ribeiro, Joana; Mota Freitas, ManuelaPoster: 10.P7 ; Chromosomal rearrangements involving three break-points are relatively rare, about 1/5,000 live births. When a chromosomal segment is moved from one part of a chromosome into another part of the same chromosome, it is considered an intrachromosomal insertion; the orientation of the inserted material in relation to the centromere may remain the same, resulting in a direct insertion, or reversed,...
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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