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Article

Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome.

American journal of medical genetics - 15 Dec 2001

Emberger W, Petek E, Kroisel P M, Zierler H, Wagner K

Abstract excerpt

We report the clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q. The first patient is a currently 11-year-old female proposita with a de novo unbalanced translocation 46,XX,der(8)(8qter-8p23.3::1q41-1qter), leading to a partial trisomy 1q41-qter and a partial monosomy for 8p23.3-pter. The most prominent clinical features of the girl are a triangular face, almond-shaped...

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PMID: 11754067
DOI: 10.1002/ajmg.10096

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