De NovoSan Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl

Sánchez Casillas, Alma Laura y Rivera, Horacio y Castro Martínez, Anna Gabriela y García Ortiz, José Elías y Córdova Fletes, Carlos y Mendoza Pérez, Paul (2016) De NovoSan Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl. Annals of Laboratory Medicine, 37 (1). pp. 88-91. ISSN 2234-3806

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Resumen

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

Tipo de elemento: Article
Materias: R Medicina > R Medicina en General
Divisiones: Medicina
Usuario depositante: Editor Repositorio
Creadores:
CreadorEmailORCID
Sánchez Casillas, Alma LauraNO ESPECIFICADONO ESPECIFICADO
Rivera, HoracioNO ESPECIFICADONO ESPECIFICADO
Castro Martínez, Anna GabrielaNO ESPECIFICADONO ESPECIFICADO
García Ortiz, José ElíasNO ESPECIFICADONO ESPECIFICADO
Córdova Fletes, CarlosNO ESPECIFICADONO ESPECIFICADO
Mendoza Pérez, PaulNO ESPECIFICADONO ESPECIFICADO
Fecha del depósito: 12 Mar 2020 17:05
Última modificación: 12 Mar 2020 17:05
URI: http://eprints.uanl.mx/id/eprint/18191

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