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Severe Developmental Delay in a Patient with 7p21.1–p14.3 Microdeletion Spanning the <i>TWIST</i> Gene and the <i>HOXA</i> Gene Cluster

1 Jan 2011

Abstract excerpt

We describe a patient with a rare interstitial deletion of chromosome 7p21.1-p14.3 detected by array-CGH. The deletion encompassed 74 genes and caused haploinsufficiency (or loss of allele) of 6 genes known to be implicated in different autosomal dominant genetic disorders: TWIST, DFNA5, CYCS, HOXA11, HOXA13, and GARS. The patient had several morphological abnormalities similar to Saethre-Chotzen syndrome (caused...

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PMID: 22570644
DOI: 10.1159/000334313

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Severe Developmental Delay in a Patient with 7p21.1–p14.3 Microdeletion Spanning the <i>TWIST</i> Gene and the <i>HOXA</i> Gene ClusterPMID 22570644Read ↗

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