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Alma Laura Sánchez-Casillas,Horacio Rivera,Anna Gabriela Castro-Martínez,José Elías García-Ortiz,Carlos Córdova-Fletes,Paul Mendoza-Pérez 대한진단검사의학회 2017 Annals of Laboratory Medicine Vol.37 No.1
Dear Editor, The rec(8)dup(8q)inv(8)(p23.1q22.1) chromosome associated with San Luis Valley Syndrome (SLVS OMIM 179613) is usually diagnosed in Hispanic patients from the USA Southwest where a founder carrier Spaniard lived around 1800 [1, 2]. This rec(8) has an 8q duplication of 47.90 Mb and an 8p deletion of 11.65 Mb [3, 4]. Excluding two de novo rec(8)dup q chromosomes characterized only by G-bands and included in a recent compilation [5], cytogenomic analyses identified nine comparable de novo der(8)dup q/del p chromosomes with or without a simultaneous 8p gain. We describe a Mexican mestizo girl with a de novo SLVS-like der(8) but with a concomitant 8p22p23.1 duplication.