Investigation of Copy Number Variation in Children with Conotruncal Heart Defects

Background:Congenital heart defects (CHD) are the most prevalent group of structural abnormalities at birth and one of the main causes of infant morbidity and mortality. Studies have shown a contribution of the copy number variation in the genesis of cardiac malformations.Objectives:Investigate gene copy number variation (CNV) in children with conotruncal heart defect.Methods:Multiplex ligation-dependent probe amplification (MLPA) was performed in 39 patients with conotruncal heart defect. Clinical and laboratory assessments were conducted in all patients. The parents of the probands who presented abnormal findings were also investigated.Results:Gene copy number variation was detected in 7/39 patients: 22q11.2 deletion, 22q11.2 duplication, 15q11.2 duplication, 20p12.2 duplication, 19p deletion, 15q and 8p23.2 duplication with 10p12.31 duplication. The clinical characteristics were consistent with those reported in the literature associated with the encountered microdeletion/microduplication. None of these changes was inherited from the parents.Conclusions:Our results demonstrate that the technique of MLPA is useful in the investigation of microdeletions and microduplications in conotruncal congenital heart defects. Early diagnosis of the copy number variation in patients with congenital heart defect assists in the prevention of morbidity and decreased mortality in these patients.

Lexico-grammatical variation in the use of REQUEST strategies in Indian and British "letters to the editor" : a cross-cultural pragmatic study

Magdeburg, Univ., Fak. für Geistes-, Sozial- und Erziehungswiss., Diss., 2009

Convergence and morphological constraint in frogs : variation in postcranial morphology ; a contribution in celebration of the distinguished scholarship of Robert F. Inger on the occasion of his sixty-fifth birthday / Sharon B. Emerson.

n.s. no.43(1988)

Geographic variation in the chicken turtle, Deirochelys reticularia Latreille / Albert Schwartz.

v.34:no.41(1956)

Variation in scales in Dermophis mexicanus (Amphibia, Gymnophiona) : are scales of systematic utility? / Maravalee H. Wake, Kristen M. Nygren.

n.s. no.36(1987)

Geographical variation in the canary, Serinus sulphuratus [by] Austin L. Rand.

v.51:no.8(1968)

Patterns of geographic variation in allozymes of the Olympic salamander, Rhyacotriton Olympicus (Caudata: Dicamptodontidae) : a contribution in celebration of the distinguished scholarship of Robert F. Inger on the occasion of his sixty-fifth birthday / David A. Good, Gloria Z. Wurst [and] David B. Wake.

n.s. no.32(1987)

Morphological and ecological variation in the flying lizards (Genus Draco) / Robert F. Inger.

n.s. no.18(1983)

Seasonal variation in natural populations of Drosophila spp. (Diptera) in two woodlands in the State of São Paulo, Brazil

The composition and the seasonality of the natural populations of Drosophila species in relation to the climatic variables temperature and rainfall were analyzed from September 1998 through October 1999 by monthly collections, in two woodlands in the Northwest of the State of São Paulo, Brazil. The diversity dominance component curves were inclined, reflecting low diversity and high dominance of few species. Among the 25 species recorded, Drosophila sturtevanti Duda, 1927 was the most frequent and abundant. On the opposite to data in literature, D. paranaensis Barros, 1950 abundance and frequency were greater than those from D. mercatorum Patterson & Wheeler, 1942. A positive correlation between abundance and rainfall was observed for D. nebulosa Sturtevant, 1916. These data are indicative of changes in the populations structure due to new adaptive strategies arised in response to environmental modifications.

Variation in Myiozetetes luteiventris.

v.44:no.9(1961)

Geographic distribution and morphological variation in Mimon bennettii (Chiroptera, Phyllostomidae)

We studied discrete and quantitative data from 88 specimens of the subgenus Mimon previously identified as Mimon bennettii (Gray, 1838) and M. cozumelae Goldman, 1914 from diverse parts of their range. Our data indicate that specimens of Mimon bennetii in Brazil presented geographic variation in morphometrical characters and mosaic variation in qualitative traits. Specimens from the Cerrado biome collected in Brazilian states like Piaui, Tocantins, and Goiás have longer forearms than those distributed in the Atlantic and Amazon forested domains. Based on morphometrics, as showed by t-tests, specimens of M. bennettii from the Brazilian Cerrado resemble phenetically more with M. cozumelae than the M. bennettii from Atlantic Forest. Characters presently used to diagnosis M. cozumelae also were also recorded to M. bennettii in diverse parts of Brazil, making that validity of M. cozumelae questionable based on this kind of traits. This research also updated the geographic distribution to the M. bennettii in Brazil.

Geographic variation in the Central American colubrine snake, Vinia sebae [by] Karl P. Schmidt and A. Stanley Rand.

v.39:no.10(1957)

Seasonal and diel variation in the fish assemblage of a Neotropical delta in southern Brazil

The objective of this study was to identify the patterns of seasonal and diel variation and the most important abiotic factors that influence variation in the fish assemblage of the Delta of the Jacuí River in southern Brazil. Seventy-two samples were collected over a one year period. Water temperature was the abiotic factor with the greatest influence on the distribution of the assemblage. The structure of the assemblage exhibited significant changes in terms of species abundance and biomass during the year, with the greatest abundance and biomass being observed during the autumn. There was no significant difference between day and night in terms of abundance, but biomass was significantly greater during the night than during the day.

Variation in the quail-dove Geotrygon frenata [by] Emmet R. Blake, Gunnar Hoy [and] Francisco Contino.

v.39:no.50(1961)

Intraspecific and interspecific variation in the Cryptotis nigrescens species complex of small-eared shrews (Insectivora, Soricidae) : with the description of a new species from Colombia / Neal Woodman, Robert M. Timm.

n.s. no.74(1993)