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

Christofolini, D. M.; Yoshimoto, M.; Squire, J. A.; Brunoni, D.; Melaragno, M. I.; Carvalheira, G.

Date

2006-06-15

Author

Christofolini, D. M.

Yoshimoto, M.

Squire, J. A.

Brunoni, D.

Melaragno, M. I.

Carvalheira, G.

Type

Artigo

ISSN

1552-4825

Is part of

American Journal of Medical Genetics Part A

DOI

10.1002/ajmg.a.31269

Metadata

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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

Citation

American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 140A, n. 12, p. 1321-1325, 2006.