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Identification of maternal uniparental isodisomy of chromosome 10 in a patient ...

Nogueira, Célia; Sales Marques, Jorge; Nesti, Claudia; Azevedo, Luisa; Di Lullo, Martina; Meschini, M. Clara; Santorelli, Filippo; Vilarinho, Laura

Date: 2013   |   Origin: Repositório Científico do Instituto Nacional de Saúde
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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, Ana

Interstitial 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...

Date: 2012   |   Origin: Repositório Científico do Instituto Nacional de Saúde
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