De NovoSan Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl
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...
Autores principales: | , , , , , |
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Formato: | Artículo |
Lenguaje: | English |
Publicado: |
2016
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Materias: | |
Acceso en línea: | http://eprints.uanl.mx/18191/1/479.pdf |