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Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients

27 May 2010

Abstract excerpt

During the last few years, an increasing number of microdeletion/microduplication syndromes have been delineated. This rapid evolution is mainly due to the availability of microarray technology as a routine diagnostic tool. Microdeletions of the 21q22.11q22.12 region encompassing the RUNX1 gene have been reported in nine patients presenting with syndromic thrombocytopenia and mental retardation. RUNX1 gene is...

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PMID: 20578134
DOI: 10.1002/ajmg.a.33478

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