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Title: Partial trisomy 15q: report of a patient and literature review. Author: Chandler K, Schrander-Stumpel CT, Engelen J, Theunissen P, Fryns JP. Journal: Genet Couns; 1997; 8(2):91-7. PubMed ID: 9219006. Abstract: We report a girl with severe developmental delay, scoliosis and mild dysmorphism. She was found to have a partial duplication of the long arm of chromosome 15. Precise cytogenetic diagnosis was possible after additional in situ hybridisation. A Karyotype of 46,XX,dup (15) (pter-->q26.3::q24-->qter) was concluded. We compare her data with the literature. No specific phenotype was found.[Abstract] [Full Text] [Related] [New Search]