Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted regions

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 9, 2012, Pages 2266-2271

  Onesimo, Roberta ^a   Orteschi, Daniela ^a   Scalzone, Maria ^a   Rossodivita, Aurora ^a   Nanni, Lorenzo ^a   Zannoni, Gian Franco ^a   Marrocco, Giacinto ^b   Battaglia, Domenica ^a   Fundarò, Carlo ^a   Neri, Giovanni ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b SAN CAMILLO DE LELLIS HOSPITAL   (Italy)

Author keywords

9p deletion syndrome; Ambiguous genitalia; Chromosome 9p deletion; Congenital heart defect; Epilepsy; Gonadal dysgenesis; Gonadoblastoma; Trigonocephaly; XY sex reversal

Indexed keywords

GENOMIC DNA; PHENOBARBITAL; PRASTERONE SULFATE; STEROID 5ALPHA REDUCTASE; TESTOSTERONE;

ARTICLE; CASE REPORT; CHROMOSOME 9P DELETION SYNDROME; CHROMOSOME DELETION; CHROMOSOME ISOLATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; DNA DETERMINATION; ECHOCARDIOGRAPHY; EPILEPSY; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE PHENOTYPE CORRELATION; GONADAL DYSGENESIS; GONADOBLASTOMA; HISTOPATHOLOGY; HORMONE DETERMINATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; KARYOTYPE 46,XY; MALE; ORCHIDOPEXY; PHENOTYPE; PRIORITY JOURNAL; SEX TRANSFORMATION; SRY GENE; URETHROPLASTY;

46, XX TESTICULAR DISORDERS OF SEX DEVELOPMENT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; HUMANS;

EID: 84865552113     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35489     Document Type: Article

References (30)

1. Alfi O, Donnell GN, Crandall BF, Derencsenyi A, Menon R. 1973. Deletion of the short arm of chromosome no.9 (46, 9p-): A new deletion syndrome. Ann Genet 16:17-22.
2. 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 the candidate regions for sex reversal and deletion 9p syndrome by MLPA. Eur J Hum Genet 17:1439-1447.
3. 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.
4. Caraballo RH, Cersósimo RO, Espeche A, Fejerman N. 2003. Benign familial and non-familial infantile seizures. Epileptic Disord 5:45-49.
5. Christ LA, Crowe CA, Micale MA, Conroy JM, Schwartz S. 1999. Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome. Am J Hum Genet 65:1387-1395.
6. Faas BH, de Leeuw N, Mieloo H, Bruinenberg J, de Vries BB. 2007. Further refinement of the candidate region for monosomy 9p syndrome. Am J Med Genet Part A 143A:2353-2356.
7. 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.
8. Fujimoto Y, Okuyama T, Iijima M, Tanaka T, Horikawa R, Yamada K, Ogata T. 2004. Genitourinary phenotype in XX patients with distal 9p monosomy. Mol Genet Metab 82:173-179.
9. 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.
10. 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.
11. Hou JW. 2003. Del (9p) syndrome: Report of four cases. Acta Paediatr Taiwan 44:50-53.
12. Huret JL, Leonard C, Forestier B, Rethoré MO, Lejeune J. 1988. Eleven new cases of del (9p) features from 80 cases. Med J Genet 25:741-749.
13. Kawara H, Yamamoto T, Harada N, Yoshiura K, Niikawa N, Nishimura A, Mizuguchi T, Matsumoto N. 2006. Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23. Am J Med Genet Part A 140A:373-377.
14. 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.
15. Livadas S, Mavrou A, Sofocleous C, van Vliet-Constantinidou C, Dracopoulou M, Dacou-Voutetakis C. 2003. Gonadoblastoma in a patient wih del(9)(p22) and sex reversal: Report of a case and review of the literature. Cancer Genet Cytogenet 143:174-177.
16. 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.
17. Mc Donald TM, Flejter W, Sheldon S, Putzi JP, Gorski LJ. 1997. XY sex reversal monosomy and gonadal dysgenesis due to 9p24 monosomy. Am J Med Genet 73:321-326.
18. 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.
19. 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.
20. Ogata T, Muroya K, Ohashi H, Mochizuki H, Hasegawa T, Kaji M. 2001. Female gonadal development in XX patients with distal 9p monosomy. Eur J Endocrinol 145:613-617.
21. Ottolenghi C, McElreavey K. 2000. Deletions of 9p and the quest for a conserved mechanism of sex determination. Mol Genet Metab 71:397-404.
22. 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.
23. 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.
24. Shashi V, Berry D, Stamper TH, Pettenati M. 1998. A further case of choanal atresia in the deletion (9p) syndrome. Am Med J Genet 80:440.
25. 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 Part A 149A:1076-1080.
26. 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.
27. 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.
28. 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.
29. Wagstaff J, Hemann M. 1995. A familial "balanced" 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings. Am J Hum Genet 56:302-309.
30. Young RS, Reed T, Hodes ME, Palmer CG. 1982. The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes. Hum Genet 62:31-39.