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The mother carried a 3\u2009Mb deletion on one copy and a reciprocal, similar sized duplication on the other copy of chromosome 22q11.2 as shown by fluorescence in situ hybridization and array comparative genome hybridization analyses. The most parsimonious mechanism for the rearrangement is a mitotic non\u2010allelic homologous recombination event in a cell in the early embryo soon after fertilization. The normal phenotype of the mother can be explained by the theory of genetic dosage compensation. This is the second documented case of such an event for this or any genomic disorder. This finding helps to reinforce this phenomenon in a human model, and has significant implications for recurrence risks for the dose\u2010compensated mother. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33861","type":"journal-article","created":{"date-parts":[[2011,2,18]],"date-time":"2011-02-18T20:09:26Z","timestamp":1298059766000},"page":"548-554","source":"Crossref","is-referenced-by-count":10,"title":["Genetic dosage compensation in a family with velo\u2010cardio\u2010facial\/DiGeorge\/22q11.2 deletion syndrome"],"prefix":"10.1002","volume":"155","author":[{"given":"Avishai A.","family":"Alkalay","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tingwei","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Montagna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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