Recombinant chromosome 8 syndrome (Q56302): Difference between revisions
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Síndrome 8 recombinante (rec (8)), também conhecida como síndrome do Vale de San Luis, é um transtorno cromossômico complexo que se deve a uma inversão pericêntrica parental do cromossomo 8 e é caracterizada por importantes anomalias cardíacas congênitas, malformações urogenitais, deficiência intelectual moderada a grave e dismorfismo craniofacial leve. | |||
| description / en | description / en | ||
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterised by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. | |||
Revision as of 03:58, 14 August 2026
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterised by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1847411826 |
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| English | Recombinant chromosome 8 syndrome |
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterised by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. |
