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Article

Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome.

American journal of medical genetics. Part A - 1 Sept 2013

Vera-Carbonell Ascensión, López-González Vanesa, Bafalliu Juan Antonio, Piñero-Fernández Juan, Susmozas Joaquín, Sorli Moisés, López-Pérez Rocío, Fernández Asunción, Guillén-Navarro Encarna, López-Expósito Isabel

Abstract excerpt

San Luis Valley syndrome, which is due to a recombinant chromosome 8 (SLV Rec8) found in Hispanic individuals from Southwestern United States, is a well-established syndrome associated with intellectual disabilities and, frequently, severe cardiac anomalies. We report for the first time on a Moroccan girl with a recombinant chromosome 8 prenatally diagnosed as SLV Rec8 by conventional cytogenetic studies. At...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 23894102
DOI: 10.1002/ajmg.a.36103

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome.PMID 23894102Read ↗

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