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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
ISSN: 1552-4825
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Appears in Collections:Em verificação - Geral

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