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Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis
Author(s) -
Christofolini Denise Maria,
Yoshimoto Maisa,
Squire Jeremy A.,
Brui Décio,
Melaragno Maria Isabel,
Carvalheira Gianna
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31269
Subject(s) - monosomy , dicentric chromosome , karyotype , genetics , biology , chromatid , sister chromatids , cytogenetics , transposition (logic) , chromosome , gene , mathematics , geometry
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::13q11 → 13pter) de novo karyotype. This aberration probably arose as a consequence of unequal sister chromatid breakage repair events. This report is the first to describe all of the most severe features associated with partial monosomy in one patient. Moreover, the delineation of monosomy 13q32 → qter in this patient facilitates identification of the developmental genes responsible for the clinical features within this region of chromosome 13. © 2006 Wiley‐Liss, Inc.