Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects

Chimerism is rare in humans and is usually discovered accidentally when a 46,XX and 46,XY karyotype is found in a same individual. We describe a malformed female infant with neural tube defect (NTD) and a 47,XY,+21[5]/46,XX[30] karyotype.3637Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP

Leber's Hereditary Optic Neuropathy: Clinical And Molecular Profile Of A Brazilian Sample.

The aim of this study was to describe clinical features and search for primary mitochondrial DNA (mtDNA) mutations in 13 unrelated Brazilian patients with Leber's hereditary optic neuropathy (LHON). Analysis of the G11778A, G3460A, and T14484C mutations was done by polymerase chain reaction and restriction fragment length polymorphism, and mutations were confirmed by direct sequencing. Mean age of onset was 24.5 years and all cases were bilateral. Sex ratio (12M:1F) and frequency of simultaneous involvement (9/13) were higher than in other studies. In nine cases there was familial recurrence: 24 male and two female relatives. Ten patients had a mutation: G11778A in six, T14484C in three and one G3460A. The frequency of patients bearing a primary mutation was lower than that described in multicentric studies but similar to that observed among Asians. A higher frequency of the T14484C mutation was detected. The contribution of Amerindians and Africans to the Brazilian mtDNA pool may account for differences in the type and frequency of primary LHON mutations.31126-

Núcleos de Ensino da Unesp: artigos 2012: volume 6: formação de professores e trabalho docente

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES