999 resultados para Chromosomal disorders


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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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The objective was to evaluate the effects of omitting macronutrients in the nutrients solution on growth characteristics and nutritional status of eggplants. The treatments were complete nutrients solution and solutions with nutrient omission: nitrogen (N), phosphorus (P), potassium (K), calcium (Ca), magnesium (Mg), and sulfur (S). The experiment was carried out under greenhouse conditions with three replicates in a completely random design. Plant height, number of leaves per plant, leaf area, relative chlorophyll index, photosynthesis rate, stomatal conductance, dry matter, concentration levels of macronutrients in plant aerial part and root system, and nutritional disorders were evaluated. Omitting elements interfered in the concentration of elements in the various plant tissues and this had as consequences limited vegetative growth, reduced dry matter and led to the development of the typical deficiency symptoms of each element. Although potassium was the most demanded of all elements, nitrogen and calcium were the most growth limiting ones.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with a de novo X;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed a de novo balanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated with de novo balanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)