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Mechanisms of ring chromosome formation, ring instability and clinical consequences

Autor: Guilherme Roberta S, Ayres Meloni Vera F, Kim Chong A, Pellegrino Renata, Takeno Sylvia S, Spinner Nancy B, Conlin Laura K, Christofolini Denise M, Kulikowski Leslie D, Melaragno Maria I

Publikováno v: BMC Medical Genetics, Vol 12, Iss 1, p 171 (2011)

Abstract Background The breakpoints and mechanisms of ring chromosome formation were studied and mapped in 14 patients. Methods Several techniques were performed such as genome-wide array, MLPA (Multiplex Ligation-Dependent Probe Amplification) and F

Externí odkaz: https://doaj.org/article/2cdd4bde58e94dc8a41ac78508ce0655

22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization.

Autor: Gollo Dantas A; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil., Bortolai A; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil; Cytogenetics Division, Hospital do Servidor Público do Estado de São Paulo, São Paulo, Brazil., Moysés-Oliveira M; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil., Takeno Herrero S; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil., Azoubel Antunes A; Hospital das Clínicas, Universidade Federal de Pernambuco, Recife, Brazil., Tavares Costa-Carvalho B; Division of Allergy, Clinical Immunology and Rheumatology, Universidade Federal de São Paulo, Brazil., Ayres Meloni V; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil., Melaragno MI; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil.

Publikováno v: Molecular syndromology [Mol Syndromol] 2016 Feb; Vol. 6 (5), pp. 242-7. Date of Electronic Publication: 2015 Nov 14.