9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism
dc.contributor.author | Quinonez, Shane C. | en_US |
dc.contributor.author | Park, John M. | en_US |
dc.contributor.author | Rabah, Raja | en_US |
dc.contributor.author | Owens, Kailey M. | en_US |
dc.contributor.author | Yashar, Beverly M. | en_US |
dc.contributor.author | Glover, Thomas W. | en_US |
dc.contributor.author | Keegan, Catherine E. | en_US |
dc.date.accessioned | 2013-08-02T20:51:43Z | |
dc.date.available | 2014-10-06T19:17:44Z | en_US |
dc.date.issued | 2013-08 | en_US |
dc.identifier.citation | Quinonez, Shane C.; Park, John M.; Rabah, Raja; Owens, Kailey M.; Yashar, Beverly M.; Glover, Thomas W.; Keegan, Catherine E. (2013). "9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism." American Journal of Medical Genetics Part A 161(8): 1882-1896. <http://hdl.handle.net/2027.42/99068> | en_US |
dc.identifier.issn | 1552-4825 | en_US |
dc.identifier.issn | 1552-4833 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/99068 | |
dc.description.abstract | Deletion of the distal segment of 9p causes a syndrome comprising trigonocephaly, minor anomalies, and intellectual disability. 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 DMRT1 . 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–phenotype 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‐hit 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. © 2013 Wiley Periodicals, Inc. | en_US |
dc.publisher | Expansion Scientific Français | en_US |
dc.publisher | Wiley Periodicals, Inc. | en_US |
dc.subject.other | Gonadoblastoma | en_US |
dc.subject.other | Distal Monosomy 9p | en_US |
dc.subject.other | 9p Partial Monosomy | en_US |
dc.subject.other | Disorders of Sexual Development | en_US |
dc.title | 9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/99068/1/ajmga36018.pdf | |
dc.identifier.doi | 10.1002/ajmg.a.36018 | en_US |
dc.identifier.source | American Journal of Medical Genetics Part A | en_US |
dc.identifier.citedreference | Raymond CS, Parker ED, Kettlewell JR, Brown LG, Page DC, Kusz K, Jaruzelska J, Reinberg Y, Flejter WL, Bardwell VJ, Hirsch B, Zarkower D. 1999. A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators. Hum Mol Genet 8: 989 – 996. | en_US |
dc.identifier.citedreference | Serville F, Allain D, Broustet A, Martin C, Gachet M, Babin JP, Cenraud J. 1976. Partial deletion of the short arm of the chromosome 9. Ann Génét 19: 143. | en_US |
dc.identifier.citedreference | Shan Z, Zabel B, Trautmann U, Hillig U, Ottolenghi C, Wan Y, Haaf T. 2000. FISH mapping of the sex‐reversal region on human chromosome 9p in two XY females and in primates. Eur J Hum Genet 8: 167 – 173. | en_US |
dc.identifier.citedreference | Shashi V, Berry D, Stamper TH, Pettenati M. 1998. A further case of choanal atresia in the deletion (9p) syndrome. Am J Med Genet 80: 440. | en_US |
dc.identifier.citedreference | Shimojima K, Yamamoto T. 2009. Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array‐CGH. Am J Med Genet 149: 1076 – 1080. | en_US |
dc.identifier.citedreference | Sultana R, Myerson D, Disteche CM. 1995. In situ hybridization analysis of the Y chromosome in gonadoblastoma. Genes Chromosomes Cancer 13: 257 – 262. | en_US |
dc.identifier.citedreference | Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BB, Faas BH, Schrander‐Stumpel CT, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, van Kessel AG, van Ravenswaaij‐Arts CM. 2008. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet Part A 146A: 1430 – 1438. | en_US |
dc.identifier.citedreference | Szymańska J, Gutkowska A, Kubalska J, Krajewska‐Walasek M, Wiśniewski L. 1984. 9p‐syndrome: Two new observations. Klin Pädiatr 196: 121. | en_US |
dc.identifier.citedreference | Taylor LD, Krizman DB, Jankovic J, Hayani A, Steuber PC, Greenberg F, Fenwick RG, Caskey CT. 1991. 9p monosomy in a patient with Gilles de la Tourette's syndrome. Neurology 41: 1513 – 1515. | en_US |
dc.identifier.citedreference | Tosson H, Rose SR, Gartner LA. 2012. Description of children with 45,X/46,XY karyotype. Eur J Pediatr 171: 521 – 529. | en_US |
dc.identifier.citedreference | Turnbull C, Rapley EA, Seal S, Pernet D, Renwick A, Hughes D, Ricketts M, Linger R, Nsengimana J, Deloukas P, Huddart RA, Bishop DT, Easton DF, Stratton MR, Rahman N, UK Testicular Cancer Collaboration. 2010 Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer Nat Genet 42: 604 – 607. | en_US |
dc.identifier.citedreference | Uhlenhaut NH, Jakob S, Anlag K, Eisenberger T, Sekido R, Kress J, Treier AC, Klugmann C, Klasen C, Holter NI, Riethmacher D, Schütz G, Cooney AJ, Lovell‐Badge R, Treier M. 2009. Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation. Cell 139: 1130 – 1142. | en_US |
dc.identifier.citedreference | Vásquez‐Velásquez AI, Arnaud‐López L, Figuera LE, Padilla‐Gutiérrez JR, Rivas F, Rivera H. 2005. Ambiguous genitalia by 9p deletion inherent to a dic(Y;9)(q12;p24). J Appl Genet 46: 415 – 418. | en_US |
dc.identifier.citedreference | Vásquez‐Velásquez AI, García‐Castillo HA, González‐Mercado MG, Dávalos IP, Raca G, Xu X, Dwyer E, Rivera H. 2011. Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter‐McAlpine syndrome and hypothyroidism. Cytogenet Genome Res 132: 233 – 238. | en_US |
dc.identifier.citedreference | Veitia R, Nunes M, Brauner R, Doco‐Fenzy M, Joanny‐Flinois O, Jaubert F, Lortat‐Jacob S, Fellous M, McElreavey K. 1997. Deletions of distal 9p associated with 46,XY male to female sex reversal: Definition of the breakpoints at 9p23.3‐p24.1. Genomics 41: 271 – 274. | en_US |
dc.identifier.citedreference | Veitia RA, Nunes M, Quintana‐Murci L, Rappaport R, Thibaud E, Jaubert F, Fellous M, McElreavey K, Gonçalves J, Silva M, Rodrigues JC, Caspurro M, Boieiro F, Marques R, Lavinha J. 1998. Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy‐9p syndrome. Am J Hum Genet 63: 901 – 905. | en_US |
dc.identifier.citedreference | Velagaleti GV, Hawkins JC, Panova NI, Lockhart LH. 2008. Partial trisomy and partial monosomy resulting from a reciprocal segregating in a large family. Indian J Pediatr 75: 956 – 960. | en_US |
dc.identifier.citedreference | Vialard F, Ottolenghi C, Gonzales M, Choiset A, Girard S, Siffroi JP, McElreavey K, Vibert‐Guigue C, Sebaoun M, Joyé N, Portnoï MF, Jaubert F, Fellous M. 2002. Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses. J Med Genet 39: 514 – 518. | en_US |
dc.identifier.citedreference | Vinci G, Chantot‐Bastaraud S, El Houate B, Lortat‐Jacob S, Brauner R, McElreavey K. 2007. Association of deletion 9p, 46, XY gonadal dysgenesis and autistic spectrum disorder. Mol Hum Reprod 13: 685 – 689. | en_US |
dc.identifier.citedreference | Wilhelm O, Osztovics M. 1982. 9p deletion syndrome. Acta Paediatr Acad Sci Hung 23: 247 – 251. | en_US |
dc.identifier.citedreference | Witters I, Vermeesch JR, Moerman PH, Fryns JP. 2004. Partial trisomy 3p/monosomy 9p with sex reversal. Ultrasound Obstet Gynecol 23: 418 – 419. | en_US |
dc.identifier.citedreference | Wouters CH, van Bodegom TM, Moll HA, Govaerts LC. 1999. Partial trisomy 4q and monosomy 9p resulting from a familial translocation t(4;9)(q27;p24) in a child with choanal atresia. Ann Génét 42: 160 – 165. | en_US |
dc.identifier.citedreference | Young RS, Bader P, Palmer CG, Kaler SG, Hodes ME. 1983. Brief clinical report: Two children with de novo del(9p). Am J Med Genet 14: 751 – 757. | en_US |
dc.identifier.citedreference | Yu S, Fiedler S, Stegner A, Graf WD. 2010. Genomic profile of copy number variants on the short arm of human chromosome 8. Eur J Hum Genet 18: 1114 – 1120. | en_US |
dc.identifier.citedreference | Yu S, Zhou XG, Fiedler SD, Brawner SJ, Joyce JM, Liu HY. 2011. Cardiac defects are infrequent findings in individuals with 8p23.1 genomic duplications containing GATA4. Circ Cardiovasc Genet 4: 620 – 625. | en_US |
dc.identifier.citedreference | Zhu L, Wilken J, Phillips NB, Narendra U, Chan G, Stratton SM, Kent SB, Weiss MA. 2000. Sexual dimorphism in diverse metazoans is regulated by a novel class of intertwined zinc fingers. Genes Dev 14: 1750 – 1764. | en_US |
dc.identifier.citedreference | Akbas E, Polat S, Karakas‐Celik S, Altintas ZM, Yildirim M, Yilgor E. 2011. A severely mental and motor retarded boy with monosomy 9pter–>p22 trisomy 10q26–>qter due to paternal reciprocal translocation 46,XY,t(9;10)(p23;q26). Genet Couns 22: 417 – 423. | en_US |
dc.identifier.citedreference | Alfi O, Donnell GN, Crandall BF, Derencsenyi A, Menon R. 1973. Deletion of the short arm of chromosome #9 (46,9p‐): A new deletion syndrome. Ann Génét 16: 17 – 22. | en_US |
dc.identifier.citedreference | Alfi OS, Donnell GN, Allderdice PW, Derencsenyi A. 1976. The 9p‐ syndrome. Ann Génét 19: 11 – 16. | en_US |
dc.identifier.citedreference | Argyriou L, Hiort O, Meinecke P, Wünsch L, Volleth M, Hinrichs F, Caliebe A, Gillessen‐Kaesbach G. 2010. A de novo unbalanced translocation leading to partial monosomy 9p23‐pter and partial trisomy 15q25.3‐qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation. Clin Dysmorphol 19: 190 – 194. | en_US |
dc.identifier.citedreference | Back E, Jung C, Zeitler S, Schempp W. 1997. De novo duplication of 7pter–>p21.2 and deletion of 9pter–>p23.5: Clinical and cytogenetic diagnosis. Clin Genet 51: 56 – 60. | en_US |
dc.identifier.citedreference | Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A. 2007. Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab 92: 3305 – 3313. | en_US |
dc.identifier.citedreference | Barbaro M, Balsamo A, Anderlid BM, Myhre AG, Gennari M, Nicoletti A, Pittalis MC, Oscarson M, Wedell A. 2009. Characterization of deletions at 9p affecting candidate regions for sex reversal and deletion 9p syndrome by MLPA. Eur J Med Genet 17: 1439 – 1447. | en_US |
dc.identifier.citedreference | Bennett CP, Docherty Z, Robb SA, Ramani P, Hawkins JR, Grant D. 1993. Deletion 9p and sex reversal. J Med Genet 30: 518 – 520. | en_US |
dc.identifier.citedreference | Boby J, Karande SC, Lahiri KR, Jain MK, Kanade S. 1994. 9p‐ syndrome. J Postgrad Med 40: 40 – 41. | en_US |
dc.identifier.citedreference | Bouma GJ, Washburn LL, Albrecht KH, Eicher EM. 2007. Correct dosage of Fog2 and Gata4 transcription factors is critical for fetal testis development in mice. Proc Natl Acad Sci USA 104: 14994 – 14999. | en_US |
dc.identifier.citedreference | Breckpot J, Thienpont B, Bauters M, Tranchevent LC, Gewillig M, Allegaert K, Vermeesch JR, Moreau Y, Devriendt K. 2012. Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1. Am J Med Genet Part A 158A: 574 – 580. | en_US |
dc.identifier.citedreference | Bricarelli FD, Fraccaro M, Lindsten J, Müller U, Baggio P, Carbone LD, Hjerpe A, Lindgren F, Mayerová A, Ringertz H, Ritzén EM, Rovetta DC, Sicchero C, Wolf U. 1981. Sex‐reversed XY females with campomelic dysplasia are H‐Y negative. Hum Genet 57: 15 – 22. | en_US |
dc.identifier.citedreference | Buaas FW, Val P, Swain A. 2009. The transcription co‐factor CITED2 functions during sex determination and early gonad development. Hum Mol Genet 18: 2989 – 3001. | en_US |
dc.identifier.citedreference | Calvari V, Bertini V, De Grandi A, Peverali G, Zuffardi O, Ferguson‐Smith M, Knudtzon J, Camerino G, Borsani G, Guioli S. 2000. A new submicroscopic deletion that refines the 9p region for sex reversal. Genomics 65: 203 – 212. | en_US |
dc.identifier.citedreference | Camerino G, Parma P, Radi O, Valentini S. 2006. Sex determination and sex reversal. Curr Opin Genet Dev 16: 289 – 292. | en_US |
dc.identifier.citedreference | Chen CP, Lin SP, Chen MR, Su JW, Chern SR, Chen YJ, Lee MS, Wang W. 2012. Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly. Genet Couns 23: 195 – 200. | en_US |
dc.identifier.citedreference | Correa SM, Washburn LL, Kahlon RS, Musson MC, Bouma GJ, Eicher EM, Albrecht KH. 2012. Sex reversal in C57BL/6J XY mice caused by increased expression of ovarian genes and insufficient activation of the testis determining pathway. PLoS Genet 8: e100259. | en_US |
dc.identifier.citedreference | Crocker M, Coghill SB, Cortinho R. 1988. An unbalanced autosomal translocation (7;9) associated with feminization. Clin Genet 34: 70 – 73. | en_US |
dc.identifier.citedreference | De Grouchy J, Turleau C. 1982. Monosomie 9p2. Atlas des maladies chromosomiques. Paris: Expansion Scientific Français. pp 162 – 167. | en_US |
dc.identifier.citedreference | de Ravel TJ, Fryns JP, Van Driessche J, Vermeesch JR. 2004. Complex chromosome re‐arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation. Am J Med Genet Part A 124A: 259 – 262. | en_US |
dc.identifier.citedreference | Edelmann L, Pandita RK, Morrow BE. 1999. Low‐copy repeats mediate the common 3‐Mb deletion in patients with velo‐cardio‐facial syndrome. Am J Hum Genet 64: 1076 – 1086. | en_US |
dc.identifier.citedreference | Eden MS, Thelin JW, Michalski K, Mitchell JA. 1985. Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46,XY, ‐9, +DER(9)T(6:9)(p211:p24). Clin Genet 28: 375 – 384. | en_US |
dc.identifier.citedreference | Erickson RP, Skinner S, Jacquet H, Campion D, Buckley PG, Mantripragada KK, Dumanski JP. 2003. Does chromosome 22 have anything to do with sex determination: Further studies on a 46,XX,22q11.2 del male. Am J Med Genet Part A 123A: 64 – 67. | en_US |
dc.identifier.citedreference | Farrugia MK, Sebire NJ, Achermann JC, Eisawi A, Duffy PG, Mushtaq I. 2013. Clinical and gonadal features and early surgical management of 45, X/46, XY and 45, X/47, XYY chromosomal mosaicism presenting with genital anomalies. J Pediatr Urol 9: 139 – 144. | en_US |
dc.identifier.citedreference | Flejter WL, Fergestad J, Gorski J, Varvill T, Chandrasekharappa S. 1998. A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779. Am J Hum Genet 63: 794 – 802. | en_US |
dc.identifier.citedreference | Freitas ÉL, Gribble SM, Simioni M, Vieira TP, Silva‐Grecco RL, Balarin MA, Prigmore E, Krepischi‐Santos AC, Rosenberg C, Szuhai K, van Haeringen A, Carter NP, Gil‐da‐Silva‐Lopes VL. 2011. Maternally inherited partial monosomy 9p (pter→p24.1) and partial trisomy 20p (pter→p12.1) characterized by microarray comparative genomic hybridization. Am J Med Genet 155: 2754 – 2761. | en_US |
dc.identifier.citedreference | Fryns JP, Pedersen JC, Duyck H, Fabry G, Van den Berghe H. 1980. Deletion of the short arm of chromosome 9. A clinically recognisable entity. Eur J Pediatr 134: 201 – 204. | en_US |
dc.identifier.citedreference | Fryns JP, Kleczkowska A, Casaer P, van den Berghe H. 1986. Double autosomal chromosomal aberration (3p trisomy/9p monosomy) and sex‐reversal. Ann Génét 29: 49 – 52. | en_US |
dc.identifier.citedreference | Funderburk SJ, Sparkes RS, Klisak I. 1979. The 9p‐ syndrome. J Med Genet 16: 75 – 79. | en_US |
dc.identifier.citedreference | Garcia‐Miñaur S, Fantes J, Murray RS, Porteous ME, Strain L, Burns JE, Stephen J, Warner JP. 2002. A novel atypical 22q11.2 distal deletion in father and son. J Med Genet 39: E62. | en_US |
dc.identifier.citedreference | Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El‐Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald‐McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. 2010. A recurrent 16p12.1 microdeletion supports a two‐hit model for severe developmental delay. Nat Genet 42: 203 – 209. | en_US |
dc.identifier.citedreference | Guioli S, Schmitt K, Critcher R, Bouzyk M, Spurr NK, Ogata T, Hoo JJ, Pinsky L, Gimelli G, Pasztor L, Goodfellow PN. 1998. Molecular analysis of 9p deletions associated with XY sex reversal: Refining the localization of a sex‐determining gene to the tip of the chromosome. Am J Hum Genet 63: 905 – 908. | en_US |
dc.identifier.citedreference | Hauge X, Raca G, Cooper S, May K, Spiro R, Adam M, Martin CL. 2008. Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p. Genet Med 10: 599 – 611. | en_US |
dc.identifier.citedreference | Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow PN. 1992. Mutational analysis of SRY: Nonsense and missense mutations in XY sex reversal. Hum Genet 88: 471 – 474. | en_US |
dc.identifier.citedreference | Hayashi S, Kurosawa K, Imoto I, Mizutani S, Inazawa J. 2005. Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array‐based comparative genomic hybridization. Am J Med Genet Part A 139A: 32 – 36. | en_US |
dc.identifier.citedreference | Hernandez A, Rivera H, Jiménez‐Sainz M, Fragoso R, Nazara Z, Cantú JM. 1979. Type and contretype signs in monosomy and trisomy 9p. On a case 46,XY, del (9)(pter yields p12:). Ann Génét 22: 155 – 157. | en_US |
dc.identifier.citedreference | Hoo JJ. 1986. Critical segment for 9p deletion syndrome. Clin Genet 29: 541 – 542. | en_US |
dc.identifier.citedreference | Hoo JJ, Salafsky IS, Lin CC. 1989. Possible localization of a recessive testis forming gene on 9p24. Am J Hum Genet (Suppl) 45: A78. | en_US |
dc.identifier.citedreference | Hughes IA. 2008. Disorders of sex development: A new definition and classification. Best Pract Res Clin Endocrinol Metab 22: 119 – 134. | en_US |
dc.identifier.citedreference | Huret JL, Leonard C, Forestier B, Rethoré MO, Lejeune J. 1988. Eleven new cases of del(9p) and features from 80 cases. J Med Genet 25: 741 – 749. | en_US |
dc.identifier.citedreference | Ioan D, Dumitriu L, Muşeţeanu P, Bereliuc L, Belengeanu V, Maximilian C. 1985. Partial 9p monosomy—A case with hypothyroidism. Endocrinologie 23: 279 – 281. | en_US |
dc.identifier.citedreference | Jotterand M, Juillard E. 1976. A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21). Hum Genet 33: 213 – 222. | en_US |
dc.identifier.citedreference | Kadotani T, Watanabe Y, Kurose Y. 1984. A case of partial monosomy for the short arm of the chromosome No. 9. Proc Japan Acad 60: 24 – 27. | en_US |
dc.identifier.citedreference | Kanetsky PA, Mitra N, Vardhanabhuti S, Vaughn DJ, Li M, Ciosek SL, Letrero R, D'Andrea K, Vaddi M, Doody DR, Weaver J, Chen C, Starr JR, Håkonarson H, Rader DJ, Godwin AK, Reilly MP, Schwartz SM, Nathanson KL. 2011. A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. Hum Mol Genet 20: 3109 – 3117. | en_US |
dc.identifier.citedreference | Kozma C, Haddad BR, Meck JM. 2000. Trisomy 7p resulting from 7p15;9p24 translocation: Report of a new case and review of associated medical complications. Am J Med Genet 91: 286 – 290. | en_US |
dc.identifier.citedreference | Kratz CP, Han SS, Rosenberg PS, Berndt SI, Burdett L, Yeager M, Korde LA, Mai PL, Pfeiffer R, Greene MH. 2011. Variants in or near KITLG, BAK1, DMRT1, and TERT‐CLPTM1L predispose to familial testicular germ cell tumour. J Med Genet 48: 473 – 476. | en_US |
dc.identifier.citedreference | Krentz AD, Murphy MW, Kim S, Cook MS, Capel B, Zhu R, Matin A, Sarver AL, Parker KL, Griswold MD, Looijenga LH, Bardwell VJ, Zarkower D. 2009. The DM domain protein DMRT1 is a dose‐sensitive regulator of fetal germ cell proliferation and pluripotency. Proc Natl Acad Sci USA 106: 22323 – 22328. | en_US |
dc.identifier.citedreference | Lau YF. 1999. Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. Am J Hum Genet 64: 921 – 927. | en_US |
dc.identifier.citedreference | Ledig S, Hiort O, Scherer G, Hoffmann M, Wolff G, Morlot S, Kuechler A, Wieacker P. 2010. Array‐CGH analysis in patients with syndromic and non‐syndromic XY gonadal dysgenesis: Evaluation of array CGH as diagnostic tool and search for new candidate loci. Hum Reprod 25: 2637 – 2646. | en_US |
dc.identifier.citedreference | Ledig S, Hiort O, Wünsch L, Wieacker P. 2012. Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development. Eur J Endocrinol 167: 119 – 124. | en_US |
dc.identifier.citedreference | Lee IW, Chou YY, Hsu KF, Chou PY, Chen M, Kuo PL, Lin SJ. 2011. Complex chromosome rearrangement 46,XY, der(9)t(Y;9)(q12;p23) in a girl with sex reversal and mental retardation. Urology 77: 1213 – 1216. | en_US |
dc.identifier.citedreference | Leung AK, Rudd NL. 1988. A case of ring (9)/de(l9p) mosaicism associated with gastroesophageal reflux. Am J Med Genet 29: 43 – 48. | en_US |
dc.identifier.citedreference | Livadas S, Mavrou A, Sofocleous C, van Vliet‐Constantinidou C, Dracopoulou M, Dacou‐Voutetakis C. 2003. Gonadoblastoma in a patient with del(9)(p22) and sex reversal: Report of a case and review of the literature. Cancer Genet Cytogenet 143: 174 – 177. | en_US |
dc.identifier.citedreference | Looijenga LH, Hersmus R, de Leeuw BH, Stoop H, Cools M, Oosterhuis JW, Drop SL, Wolffenbuttel KP. 2010. Gonadal tumours and DSD. Best Pract Res Clin Endocrinol Metab 24: 291 – 310. | en_US |
dc.identifier.citedreference | Lourenço D, Brauner R, Rybczynska M, Nihoul‐Fékété C, McElreavey K, Bashamboo A. 2011. Loss‐of‐function mutation in GATA4 causes anomalies of human testicular development. Proc Natl Acad Sci USA 108: 1597 – 1602. | en_US |
dc.identifier.citedreference | Lupski JR. 2012. Digenic inheritance and Mendelian disease. Nat Genet 44: 1291 – 1292. | en_US |
dc.identifier.citedreference | Lytle C, Wade J, Farrier A, Flohrschutz F III, Hecht B, Allanson J. 1989. Duplication 6p and deletion 9p. J Med Genet 26: 64 – 66. | en_US |
dc.identifier.citedreference | Magenis RE, Allen LJ, Brown MG, Dougherty TM, Black M, HafitsBorchardt V, Toth‐Fejel S, Lawce H, Smith L. 1990. 9p monosomy associated with XY gonadal dysgenesis: A contiguous gene syndrome ? Am J Hum Genet (Suppl) 47: A33. | en_US |
dc.identifier.citedreference | Matson CK, Murphy MW, Sarver AL, Griswold MD, Bardwell VJ, Zarkower D. 2011. DMRT1 prevents female reprogramming in the postnatal mammalian testis. Nature 476: 101 – 104. | en_US |
dc.identifier.citedreference | Matson CK, Zarkower D. 2012. Sex and the singular DM domain: Insights into sexual regulation, evolution and plasticity. Nat Rev Genet 13: 163 – 174. | en_US |
dc.identifier.citedreference | McDermid HE, Morrow BE. 2002. Genomic disorders on 22q11. Am J Hum Genet 70: 1077 – 1088. | en_US |
dc.identifier.citedreference | McDonald MT, Flejter W, Sheldon S, Putzi MJ, Gorski JL. 1997. XY sex reversal and gonadal dysgenesis due to 9p24 monosomy. Am J Med Genet 73: 321 – 326. | en_US |
dc.identifier.citedreference | Monaghan HP, Howard NJ. 1981. Short stature and microgenitalia in the 9p‐syndrome. Ir J Med Sci 150: 382 – 384. | en_US |
dc.identifier.citedreference | Muroya K, Okuyama T, Goishi K, Ogiso Y, Fukuda S, Kameyama J, Sato H, Suzuki Y, Terasaki H, Gomyo H, Wakui K, Fukushima Y, Ogata T. 2000. Sex‐determining gene(s) on distal 9p: Clinical and molecular studies in six cases. J Clin Endocrinol Metab 85: 3094 – 3100. | en_US |
dc.identifier.citedreference | Neira VA, Córdova‐Fletes C, Grondin Y, Ramirez‐Velazco A, Figuera LE, Ortíz‐López R, Barbaro M. 2012. Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion. Am J Med Genet Part A 158A: 1498 – 1502. | en_US |
dc.identifier.citedreference | Nielsen J, Homma A, Christiansen F, Rasmussen K, Saldaña‐Garcia P. 1977. The deletion 9p syndrome. A 61‐year‐old man with deletion of short arm 9. Clin Genet 12: 80 – 84. | en_US |
dc.identifier.citedreference | Ogata T, Muroya K, Matsuo N, Hata J, Fukushima Y, Suzuki Y. 1997. Impaired male sex development in an infant with molecularly defined partial 9p monosomy: Implication for a testis forming gene(s) on 9p. J Med Genet 34: 331 – 334. | en_US |
dc.identifier.citedreference | Ogilvie CM, Ahn JW, Mann K, Roberts RG, Flinter F. 2009. A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: A case report. Mol Cytogenet 2: 9. | en_US |
dc.identifier.citedreference | Onesimo R, Orteschi D, Scalzone M, Rossodivita A, Nanni L, Zannoni GF, Marrocco G, Battaglia D, Fundarò C, Neri G. 2012. Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted regions. Am J Med Genet Part A 158A: 2266 – 2271. | en_US |
dc.identifier.citedreference | Ostrer H. 2004. Alterations of sex differentiation in males: From candidate genes to diagnosis and treatments. Curr Pharm Des 10: 501 – 511. | en_US |
dc.identifier.citedreference | Ounap K, Uibo O, Zordania R, Kiho L, Ilus T, Oiglane‐Shlik E, Bartsch O. 2004. Three patients with 9p deletions including DMRT1 and DMR T2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development. Am J Med Genet Part A 130A: 415 – 423. | en_US |
dc.identifier.citedreference | Page DC. 1987. Hypothesis: A Y‐chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development 101 Suppl: 151 – 155. | en_US |
dc.identifier.citedreference | Pavone L, Mollica F, Sorge G, Sciacca F, d'Agata A, Laurence KM. 1978. Partial monosomy 9. Ann Génét 21: 186 – 188. | en_US |
dc.identifier.citedreference | Phelan MC, Rogers RC, Crawford EC, Brown LG, Page DC. 2002. Velocardiofacial syndrome in an unexplained XX male. Am J Med Genet Part A 116A: 77 – 79. | en_US |
dc.identifier.citedreference | Philibert P, Leprieur E, Zenaty D, Thibaud E, Polak M, Frances AM, Lespinasse J, Raingeard I, Servant N, Audran F, Paris F, Sultan C. 2010. Steriodogenic factor‐1 ( SF‐1 ) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration. Reprod Biol Endocrinol 8: 28 – 33. | en_US |
dc.identifier.citedreference | Prieto F, Badia L, Asensi F, Roques V. 1980. Two reciprocal translocations t(9p+;13q‐) and t(13q‐;21q+): A study of the families. Hum Genet 54: 7 – 11. | en_US |
dc.identifier.citedreference | Rauch A, Zink S, Zweier C, Thiel CT, Koch A, Rauch R, Lascorz J, Hüffmeier U, Weyand M, Singer H, Hofbeck M. 2005. Systematic assessment of atypical deletions reveals genotype‐phenotype correlation in 22q11.2. J Med Genet 42: 871 – 876. | en_US |
dc.identifier.citedreference | Raymond CS, Shamu CE, Shen MM, Seifert KJ, Hirsch B, Hodgkin J, Zarkower D. 1998. Evidence for evolutionary conservation of sex‐determining genes. Nature 391: 691 – 695. | en_US |
dc.identifier.citedreference | Raymond CS, Murphy MW, O'Sullivan MG, Bardwell VJ, Zarkower D. 2000. Dmrt1, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation. Genes Dev 14: 2587 – 2595. | en_US |
dc.identifier.citedreference | Reamon‐Buettner SM, Borlak J. 2005. GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart. J Med Genet 42: e32. | en_US |
dc.identifier.citedreference | Recalcati MP, Bellini M, Norsa L, Ballarati L, Caselli R, Russo S, Larizza L, Giardino D. 2012. Complex rearrangement involving 9p deletion and duplication in a syndromic patient: Genotype/phenotype correlation and review of the literature. Gene 502: 40 – 45. | en_US |
dc.identifier.citedreference | Schimmenti LA, Higgins RR, Mendelsohn NJ, Casey TM, Steinberger J, Mammel MC, Wiesner GL. 1995. Monosomy 9p24–>pter and trisomy 5q31– > qter: Case report and review of two cases. Am J Med Genet 57: 52 – 56. | en_US |
dc.identifier.citedreference | Schinzel A. 2001. 9p‐ syndrome. Catalogue of unbalanced chromosome aberrations in man. New York: De Gruyter. pp 399 – 400. | en_US |
dc.identifier.citedreference | Sekido R, Lovell‐Badge R. 2009. Sex determination and SRY: Down to a wink and a nudge ? Trends Genet 25: 19 – 29. | en_US |
dc.identifier.citedreference | Senée V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon C, Nicolino M, Boileau P, Cavener DR, Bougnères P, Taha D, Julier C. 2006. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet 38: 682 – 687. | en_US |
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