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Patients with this condition also frequently present with genitourinary abnormalities including cryptorchidism, hypospadias, ambiguous genitalia, or 46,XY testicular dysgenesis. The region responsible for the gonadal dysgenesis has been localized to 9p24.3 with the likely responsible gene identified as <jats:italic>DMRT1<\/jats:italic>. Similar to patients with other molecular causes of 46,XY gonadal dysgenesis, patients with partial del 9p have an increased risk of gonadoblastoma. We present two patients with 46,XY gonadal dysgenesis due to partial 9p monosomy. Both patients were also diagnosed with gonadoblastoma following gonadectomy at an early age. Chromosomal microarray analyses refined the cytogenetic abnormalities and allowed potential genotype\u2013phenotype relationships to be determined. We also review the literature as it pertains to partial 9p monosomy, genital abnormalities and gonadoblastoma and note that a large percentage of affected patients present with two copy number variations. We propose that a two\u2010hit mechanism may be involved in the incomplete penetrance and variable expressivity of partial 9p monosomy and an abnormal genital phenotype. The significant percentage of gonadoblastoma in patients with 46,XY complete gonadal dysgenesis due to partial 9p monosomy also continues to support the necessity of gonadectomy in this patient population. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36018","type":"journal-article","created":{"date-parts":[[2013,7,4]],"date-time":"2013-07-04T05:32:05Z","timestamp":1372915925000},"page":"1882-1896","source":"Crossref","is-referenced-by-count":28,"title":["9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism"],"prefix":"10.1002","volume":"161","author":[{"given":"Shane C.","family":"Quinonez","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Genetics University of Michigan Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Urology University of Michigan Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raja","family":"Rabah","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Michigan Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kailey M.","family":"Owens","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics University of Michigan Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly M.","family":"Yashar","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Michigan Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas W.","family":"Glover","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics University of Michigan Ann Arbor Michigan"},{"name":"Department of Human Genetics University of Michigan Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine E.","family":"Keegan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics University of Michigan Ann Arbor Michigan"},{"name":"Department of Human Genetics University of Michigan Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,3]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"417","article-title":"A severely mental and motor retarded boy with monosomy 9pter\u2013>p22 trisomy 10q26\u2013>qter due to paternal reciprocal translocation 46,XY,t(9;10)(p23;q26)","volume":"22","author":"Akbas E","year":"2011","journal-title":"Genet Couns"},{"key":"e_1_2_5_3_1","first-page":"17","article-title":"Deletion of the short arm of chromosome #9 (46,9p\u2010): A new deletion syndrome","volume":"16","author":"Alfi O","year":"1973","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_5_4_1","first-page":"11","article-title":"The 9p\u2010 syndrome","volume":"19","author":"Alfi OS","year":"1976","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32833c8ba1"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02416.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0505"},{"key":"e_1_2_5_8_1","first-page":"1439","article-title":"Characterization of deletions at 9p affecting candidate regions for sex reversal and deletion 9p syndrome by MLPA","volume":"17","author":"Barbaro M","year":"2009","journal-title":"Eur J Med Genet"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.6.518"},{"key":"e_1_2_5_10_1","first-page":"40","article-title":"9p\u2010 syndrome","volume":"40","author":"Boby J","year":"1994","journal-title":"J Postgrad Med"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0701677104"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35217"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00271160"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp237"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6160"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2006.04.014"},{"key":"e_1_2_5_17_1","first-page":"195","article-title":"Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly","volume":"23","author":"Chen CP","year":"2012","journal-title":"Genet Couns"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002569"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02618.x"},{"key":"e_1_2_5_20_1","first-page":"162","volume-title":"Monosomie 9p2. 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