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Parental karyotypes were normal. FISH analysis using a whole chromosome paint probe for chromosome 4 and subtelomere probes showed a signal on the entire add (4) chromosome and loss of the 4p subtelomere region, respectively. Additional analysis using microsatellite markers for chromosome 4 and whole\u2010genome array comparative genomic hybridization (array\u2010CGH) identified a duplication of the region 4p13\u2009\u2192\u20094p16.3. Her karyotype was thus interpreted as an inverted duplication with terminal deletion of 4p: 46,XX,der(4)(:p13\u2009\u2192\u2009p16.3::p16.3\u2009\u2192\u2009qter). The clinical features of our patient differed from those typically observed in Wolf\u2013Hirschhorn syndrome and were more compatible with duplication 4(p14\u2009\u2192\u2009p16.3), with preservation of the WHS critical region. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32888","type":"journal-article","created":{"date-parts":[[2009,5,16]],"date-time":"2009-05-16T00:15:18Z","timestamp":1242432918000},"page":"1302-1307","source":"Crossref","is-referenced-by-count":12,"title":["Inv dup del(4)(:p13\u2009\u2192\u2009p16.3::p16.3\u2009\u2192\u2009qter) in a girl without typical manifestations of Wolf\u2013Hirschhorn syndrome"],"prefix":"10.1002","volume":"149A","author":[{"given":"Giorgio A.","family":"Paskulin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariluce","family":"Riegel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip 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