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Whereas almost all of mutations analyzed thus far are predicted to disrupt the constitutively active C\u2010terminal serine\/threonine kinase domain of TGFBR2, mounting evidence suggests that the molecular mechanism underlying these diseases is more complex than simple haploinsufficiency. Using exon\u2010targeted oligonucleotide array comparative genomic hybridization, we identified an \u223c896\u2009kb deletion of <jats:italic>TGFBR2<\/jats:italic> in a 20\u2010month\u2010old female with microcephaly and global developmental delay, but no stigmata of LDS. FISH analysis showed no evidence of this deletion in the parental peripheral blood samples; however, somatic mosaicism was detected using PCR in the paternal DNA from peripheral blood lymphocytes and lymphoblasts. Our data suggest that <jats:italic>TGFBR2<\/jats:italic> haploinsufficiency may cause a phenotype, which is distinct from LDS. Moreover, we propose that somatic mosaicism below the detection threshold of FISH analysis in asymptomatic parents of children with genomic disorders may be more common than previously recognized. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34015","type":"journal-article","created":{"date-parts":[[2011,5,12]],"date-time":"2011-05-12T21:39:37Z","timestamp":1305236377000},"page":"1442-1447","source":"Crossref","is-referenced-by-count":15,"title":["<i>TGFBR2<\/i> deletion in a 20\u2010month\u2010old female with developmental delay and microcephaly"],"prefix":"10.1002","volume":"155","author":[{"given":"Ian M.","family":"Campbell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna E.","family":"Kolodziejska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael 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