Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis

Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/28978

Title:	Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis
Authors:	Christofolini, D. M. Yoshimoto, M. Squire, J. A. Brunoni, D. Melaragno, M. I. Carvalheira, G. Universidade Federal de São Paulo (UNIFESP) Univ Toronto
Keywords:	monosomy 13q32 -> qter C banding NOR staining mBAND cytoband painting penoscrotal transposition
Issue Date:	15-Jun-2006
Publisher:	Wiley-Blackwell
Citation:	American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 140A, n. 12, p. 1321-1325, 2006.
Abstract:	We report on a patient with hydrocephaly, penoscrotal transposition, oligodactyly, and minor anomalies. Comprehensive cytogenetic studies involving both classical cytogenetic methods and mBAND analysis were used to show a stable dicentric rearranged chromosome 13 that result in a 46,XY,psu dic(13;13)(13pter -> 13q32
URI:	http://repositorio.unifesp.br/handle/11600/28978
ISSN:	1552-4825
Other Identifiers:	http://dx.doi.org/10.1002/ajmg.a.31269
Appears in Collections:	Em verificação - Geral

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