61 research outputs found
Duplication 8p syndrome: Studies in a family with a reciprocal translocation between chromosomes 8 and 12
We report a family in which six individuals were carriers of a translocation between chromosomes 8 and 12. The balanced carriers had a chromosome constitution: 46,XX or 46,XY,t(8;12)(021;p13). Six individuals in five generations were mentally retarded. Three of them were examined; their chromosome constitution was 46,XX or 46,XY,der(12),t(8;12)(p21;p13); thus they had a duplication of 8pter→8p21 and possible deficiency of 12pter→12p13. The activities of the enzymes that are coded by genes on 8p (glutathione reductase, GSR, E.C. 1.6.4.2.) and 12p (triosephosphate isomerase, TPI, E.C. 5.3.1.1.; lactate dehydrogenase-B, LDH-B, E.C. 1.1.1.27.; and glyceraldehyde-3-phosphate dehydrogenase, G3PD, E.C. 1.2.1.12.) were normal in these individuals. These findings helped in interpreting the position of the break points in the respective chromosomes. The phenotypic findings in our patients are discussed. Segregation analysis indicates no significant variation from a 25% recurrence risk for each of the possible genotypes in the offspring of balanced carriers.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/38233/1/1320070318_ftp.pd
Two new species of Phalangopsis Serville, 1831 (Orthoptera: Grylloidea: Phalangopsidae) from Brazilian Amazon Forest
We describe here two new species of the genus Phalangopsis Serville, 1831 from the Brazilian Amazon Forest. The male genitalia and the female copulatory papilla were described, and a combination of diagnostic characteristics was given to separate both new species from the other described species. The principal morphological characteristics of this genus were discussed.Aqui foram descritas duas espécies novas do gênero Phalangopsis Serville, 1831 da Floresta Amazônica brasileira. A genitália masculina e a papila copulatória feminina são descritas, bem como uma combinação de caracterÃsticas diagnósticas para separar ambas as novas espécies das outras espécies descritas. As principais caracterÃsticas morfológicas foram discutidas
New group, new species and new records from Brazil of the atropos, brasilianus and giganteus groups (Blattaria, Blaberidae, Blaberinae)
Industry associations as facilitators of social capital: the establishment and early operations of the Melbourne Woolbrokers Association
Relocation of the selling of Australia\u27s wool clip from London to cities in Australia in the late nineteenth century led to the creation of wool selling industry associations, such as the Melbourne Woolbrokers Association (MWA). Highly successful in fostering competitive collaboration that improved market efficiency, the Association rested on the social capital brought to it and further developed by the participants, individuals with extensive connections in the pastoral, banking and transport industries. The collective social capital vested in the Association enabled the earning of economic rents, firstly from the high trust created through internal cohesion reinforced by formalised sanctions, and secondly from a capacity to span \u27structural holes\u27 between networks outside of the Association
De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation
A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies
Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius
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