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Vazquez Cantú,D.L; Gutiérrez García,V.M; Cruz-Camino,H; Lara Díaz,V.J; Garza García,K; Garduño Zarazúa,L.M; Meléndez Hernández,R; Paz Martínez,A; Mayén Molina,D.G; Cantú-Reyna,C. |
The 18p tetrasomy is a structural chromosomal abnormality with the presence of an extra isochromosome 18p, caused by a nondisjunction failure during maternal meiosis II. This additional i(18p) occurs in 1 of 180,000 live-born children worldwide, affecting males and females equally. It is characterized by craniofacial dysmorphisms; ears, nose and throat (ENT) abnormalities; musculoskeletal alterations; and global development delay. We aim to present the clinical and cytogenetic findings of a 3-year-10-month-old Latin American male with i(18p), to support the gene dosage effects, comparing his features with the ones reported in literature. This patient was product of the second pregnancy of a 39-year-old woman and the first son of a 49-year-old man. His main... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Tetrasomy 18p; Chromosome 18; Isochromosome; Cytogenetic analysis; Case report. |
Ano: 2018 |
URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332018000100002 |
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Bender,Renar João; Santos,Rinaldo Pires dos; Guerra,Divanilde; Schwarz,Sergio Francisco; Bender,Stefan da Silveira. |
ABSTRACT: Seedlessness in fruit is a trait that is much sought after by juice making industries. Close to the city of São Sebastião do Caí, in the state of Rio Grande do Sul (RS), Brazil, a new mutant orange originating from natural mutation was identified and selected as a seedless material. To determine the mechanisms involved in the absence of seeds, the reproductive structures of this new mutant by comparison with a Valencia sweet orange as control, a cultivar with a profusion of seeds, was analyzed in terms of meiotic behavior, meiotic index, pollen viability, in vitro germination, and ovule features to determine the grounds for seed absence. Other morphological analyzes allowed for visualizing the structures of normal appearance and size in both... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cytogenetic analysis; Embryo sac abortion; Female sterility; Meiotic analysis; Pollen viability. |
Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-90162017000500371 |
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