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A standard karyotype suggested a small intrachromosomal duplication of chromosome 7q. The chromosomal rearrangement was characterized by mBAND, which disclosed a reciprocal interstitial translocation t(7;8)(q21q22;q23q24). FISH analysis and array\u2010CGH analysis showed a paracentric inversion of 7q and a microdeletion of 7q21.13. The parents had normal chromosomes. The deletion found in the present patient confirms that candidate region of ectrodactyly\u2010deafness (OMIM 220600) maps to 7q21 and suggests new candidate genes for that disorder. This patient also had facial features reminiscent of tricho\u2010rhino\u2010phalangeal syndrome and one chromosome breakpoint involved band 8q24, a locus for this disorder. In addition, <jats:italic>FOG1<\/jats:italic> gene maps to 8q23 and has been implicated in a subset of subjects with tretralogy of Fallot. We suggest that the aberration of 8q may have contributed to her facial and cardiac findings. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32093","type":"journal-article","created":{"date-parts":[[2007,12,13]],"date-time":"2007-12-13T21:47:02Z","timestamp":1197582422000},"page":"238-244","source":"Crossref","is-referenced-by-count":31,"title":["Complex rearrangement of chromosomes 7q21.13\u2010q22.1 confirms the ectrodactyly\u2010deafness locus and suggests new candidate 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