Tandem duplication of proximal 5q. |
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| Authors: | A Rojas-Martinez D Garcia-Cruz C Medina M Moller C M Restrepo H Rivera |
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| Institution: | División de Genética, Instituto Mexicano, Guadalajara, Jalisco, Mexico. |
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| Abstract: | A 3.5-year-old boy with a de novo tandem duplication 5q11.1----5q15 is reported. Since the physical stigmata of seven liveborn cases with 5q proximal duplications are variable and inconspicuous, a recognizable syndrome could not be delineated. On the contrary, the associated developmental delay seems to be severe in duplications extending into 5q22 and mild in duplications 5q11----q13. |
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