Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1-->q35 due to maternal ins(14;2) translocation. |
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| Authors: | T Lukusa K Devriendt J Jaeken J P Fryns |
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| Institution: | Center for Human Genetics, University of Leuven, Belgium. |
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| Abstract: | We report two male sibs with minor congenital anomalies and moderate to severe developmental delay who are trisomic for the interstitial 2q32.1-->q35 segment. The partial 2q duplication derived from a maternal balanced insertion translocation, 46,XX,dir ins (14;2)(q22;q32.1q35). To the best of our knowledge, no similar case observation has been previously published. |
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