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Small telomeric 9p24.3 deletions cause genital anomalies in male subjects, ranging from disorder of gonadal sex to genital differentiation anomalies, while large terminal or interstitial deletions result in 9p\u2010malformation syndrome phenotype. The critical region for non\u2010syndromic 46,XY sex reversal was assigned to a 1\u2009Mb interval of chromosome 9p, extending from the telomere to the<jats:italic>DMRT<\/jats:italic>genes cluster. The 9p\u2010syndrome was assigned to bands 9p22.3p24.1, but a phenotypic map has not been established for this condition, probably because of the lack of detailed molecular and\/or phenotypic characterization, as well as frequent involvement of additional chromosome rearrangements. Here, we describe a unique patient with a small isolated 9p terminal deletion, characterized by array\u2010CGH and FISH, who shows a complex phenotype with multiple physical anomalies, resembling the 9p\u2010syndrome, disorder of sex development with gonadoblastoma, congenital heart defect and epilepsy. The observed deletion includes the 46,XY sex\u2010reversal critical region, excluding the region so far associated with the 9p\u2010syndrome. Genotype\u2013phenotype correlations are tentatively established comparing our patient to seven other previously reported males with isolated terminal 9p deletions, finely defined at a molecular level. Our observations expand the 9p deletion clinical spectrum, and add significantly to the definition of a 9p\u2010syndrome critical region. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35489","type":"journal-article","created":{"date-parts":[[2012,7,21]],"date-time":"2012-07-21T08:38:20Z","timestamp":1342859900000},"page":"2266-2271","source":"Crossref","is-referenced-by-count":37,"title":["Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted 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