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Title: Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1-->q35 due to maternal ins(14;2) translocation. Author: Lukusa T, Devriendt K, Jaeken J, Fryns JP. Journal: Clin Dysmorphol; 1999 Jan; 8(1):47-51. PubMed ID: 10327251. 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.[Abstract] [Full Text] [Related] [New Search]