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Interstitial dup(6)(q22.3q24) characterized by cCGH resulting from familial inv...
Oliva Teles, Natália; Mota Ribeiro, Manuela; Marques, Bárbara; Correia, Hildeberto; Aires-Pereira, Joana; Dias, Cristina; Furtuna, AnaAbstrat publicado em: European Journal of Human Genetics. 2003;21(Suppl 2):480
Data: 2013
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Origem: Repositório Científico do Instituto Nacional de Saúde
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...
Data: 2012
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Origem: Repositório Científico do Instituto Nacional de Saúde
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