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We applied array\u2010based comparative genomic hybridization (aCGH) of \u223c1Mb resolution to 29 CDH patients with prior normal karyotypes who had been recruited into our multi\u2010site study. One patient, clinically diagnosed with Fryns syndrome, demonstrated a de novo 5Mb deletion at chromosome region 1q41\u2013q42.12 that was confirmed by FISH. Given prior reports of CDH in association with cytogenetic abnormalities in this region, we propose that this represents a locus for Fryns syndrome, a Fryns syndrome phenocopy, or CDH. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31025","type":"journal-article","created":{"date-parts":[[2005,12,6]],"date-time":"2005-12-06T21:50:01Z","timestamp":1133905801000},"page":"17-23","source":"Crossref","is-referenced-by-count":64,"title":["Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome"],"prefix":"10.1002","volume":"140A","author":[{"given":"S.","family":"Kantarci","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Casavant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Prada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Russell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Byrne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. 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