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Article

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting <i>UTRN</i> in a patient with arthrogryposis

25 Jun 2010

Abstract excerpt

Chromosome 6q duplications have been documented repeatedly, allowing the delineation of a "6q duplication syndrome," characterized by hypertelorism, downslanting palpebral fissures, tented upper lip, short neck, severe mental and growth retardation, and joint contractures. Most reported cases result from malsegregation of a reciprocal translocation leading to a terminal 6q duplication and partial monosomy of...

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PMID: 20583184
DOI: 10.1002/ajmg.a.33433

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