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: | inglés |
| Publicado: |
2016
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| Materias: | |
| Acceso en línea: | http://eprints.uanl.mx/18191/1/479.pdf |
| _version_ | 1824415162609696768 |
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| author | Sánchez Casillas, Alma Laura Rivera, Horacio Castro Martínez, Anna Gabriela García Ortiz, José Elías Córdova Fletes, Carlos Mendoza Pérez, Paúl |
| author_facet | Sánchez Casillas, Alma Laura Rivera, Horacio Castro Martínez, Anna Gabriela García Ortiz, José Elías Córdova Fletes, Carlos Mendoza Pérez, Paúl |
| author_sort | Sánchez Casillas, Alma Laura |
| collection | Repositorio Institucional |
| description | 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 |
| format | Article |
| id | eprints-18191 |
| institution | UANL |
| language | English |
| publishDate | 2016 |
| record_format | eprints |
| spelling | eprints-181912022-03-06T19:25:59Z http://eprints.uanl.mx/18191/ De NovoSan Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl Sánchez Casillas, Alma Laura Rivera, Horacio Castro Martínez, Anna Gabriela García Ortiz, José Elías Córdova Fletes, Carlos Mendoza Pérez, Paúl R Medicina en General 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 2016-08-24 Article PeerReviewed text en cc_by_nc_nd http://eprints.uanl.mx/18191/1/479.pdf http://eprints.uanl.mx/18191/1.haspreviewThumbnailVersion/479.pdf Sánchez Casillas, Alma Laura y Rivera, Horacio y Castro Martínez, Anna Gabriela y García Ortiz, José Elías y Córdova Fletes, Carlos y Mendoza Pérez, Paúl (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 http://doi.org/10.3343/alm.2017.37.1.88 doi:10.3343/alm.2017.37.1.88 |
| spellingShingle | R Medicina en General Sánchez Casillas, Alma Laura Rivera, Horacio Castro Martínez, Anna Gabriela García Ortiz, José Elías Córdova Fletes, Carlos Mendoza Pérez, Paúl De NovoSan Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl |
| thumbnail | https://rediab.uanl.mx/themes/sandal5/images/online.png |
| title | De NovoSan Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl |
| title_full | De NovoSan Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl |
| title_fullStr | De NovoSan Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl |
| title_full_unstemmed | De NovoSan Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl |
| title_short | De NovoSan Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl |
| title_sort | de novosan luis valley syndrome like der 8 chromosome with a concomitant dup 8p22 in a mexican girl |
| topic | R Medicina en General |
| url | http://eprints.uanl.mx/18191/1/479.pdf |
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