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We report on a patient with a typical M\u2010D syndrome, but also short stature, microcephaly, and mental retardation. Molecular analysis showed no mutations within the <jats:italic>SGCE<\/jats:italic> gene but a microdeletion encompassing the <jats:italic>SGCE<\/jats:italic> gene in chromosome region 7q21. Array\u2010CGH analysis showed that the deletion spanned approximately 1.88\u2009Mb. We suggest that M\u2010D plus patients with mental retardation, microcephaly, dysmorphism, or short stature, all frequently associated disorders, should be screened for 7q21 microdeletion. By examining previously published cases of mental retardation associated with pure 7q21 deletions, we identified two distinct regions of respectively 455 and 496\u2009kb that are critical for mental retardation and growth retardation. Among the genes located within these regions, <jats:italic>LOC253012<\/jats:italic>, also known as <jats:italic>HEPACAM2<\/jats:italic>, is a good candidate for both mental retardation and microcephaly. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33369","type":"journal-article","created":{"date-parts":[[2010,4,22]],"date-time":"2010-04-22T19:59:38Z","timestamp":1271966378000},"page":"1244-1249","source":"Crossref","is-referenced-by-count":14,"title":["Myoclonus dystonia plus syndrome due to a novel 7q21 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