Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production

Kobe Journal of Medical Sciences

Volumn 53, Issue 4, 2007, Pages 143-150

  Ogino, Wakako ^a   Takeshima, Yasuhiro ^a   Nishiyama, Atsushi ^a   Yagi, Mariko ^a   Oka, Nobutoshi ^b   Matsuo, Masafumi ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Department of Neurology   (Japan)

Author keywords

Concealed penis; FISH; Klinefelter syndrome; Tetrasomy 9p

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL FEATURE; GENE OVEREXPRESSION; HORMONE RELEASE; HUMAN; KLINEFELTER SYNDROME; MALE; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; SCHOOL CHILD; TESTOSTERONE SYNTHESIS; TETRASOMY;

ANEUPLOIDY; CHILD; CHORIONIC GONADOTROPIN; CHROMOSOMES, HUMAN, PAIR 9; DIAGNOSIS, DIFFERENTIAL; HUMANS; KARYOTYPING; KLINEFELTER SYNDROME; MALE; MOSAICISM; PHENOTYPE; TESTOSTERONE;

EID: 35648944746     PISSN: 00232513     EISSN: 18830498     Source Type: Journal    
DOI: None     Document Type: Article

References (38)

1. Andou, R., Mimaki, T., Ogihara, T., Tamai, H., and Mino, M. 1994. A case of tetrasomy 9p. Acta Paediatr Jpn 36: 724-726.
2. Balestrazzi, P., Croci, G., Frassi, C., Franchi, F., and Giovannelli, G. 1983. Tetrasomy 9p confirmed by GALT. J Med Genet 20: 396-399.
3. Calvari, V., Bertini, V., De Grandi, A., Peverali, G., Zuffardi, O., Ferguson-Smith, M., Knudtzon, J., Camerino, G., Borsani, G., and Guioli, S. 2000. A new submicroscopic deletion that refines the 9p region for sex reversal. Genomics 65: 203-212.
4. Calvieri, F., Tozzi, C., Benincori, C., De Merulis, M.V., Bellussi, A., Genuardi, M., and Neri, G. 1988. Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations. Eur J Pediatr 147: 645-648.
5. Cazorla Calleja, M.R., Verdu, A., and Felix, V. 2003. Dandy-Walker malformation in an infant with tetrasomy 9p. Brain Dev 25: 220-223.
6. Cuoco, C., Gimelli, G., Pasquali, F., Poloni, L., Zuffardi, O., Alicata, P., Battaglino, G., Bernardi, F., Cerone, R., Cotellessa, M., Ghidoni, A., and Motta, S. 1982. Duplication of the short arm of chromosome 9. Analysis of five cases. Hum Genet 61: 3-7.
7. de Azevedo Moreira, L.M., Freitas, L.M., Gusmao, F.A., and Riegel, M. 2003. New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl. Birth Defects Res A Clin Mol Teratol 67: 985-988.
8. Deurloo, K.L., Cobben, J.M., Heins, Y.M., de Ru, M., Wijnaendts, L.C., and van Vugt, J.M. 2004. Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report. Prenat Diagn 24: 796-798.
9. Dhandha, S., Hogge, W.A., Surti, U., and McPherson, E. 2002. Three cases of tetrasomy 9p. Am J Med Genet 113: 375-380.
10. Dutly, F., Balmer, D., Baumer, A., Binkert, F., and Schinzel, A. 1998. Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation. Eur J Hum Genet 6: 140-144.
11. Eggermann, T., Rossier, E., Theurer-Mainka, U., Backsch, C., Klein-Vogler, U., Enders, H., and Kaiser, P. 1998. New case of mosaic tetrasomy 9p with additional neurometabolic findings. Am J Med Genet 75: 530-533.
12. Fujimoto, Y., Okuyama, T., Iijima, M., Tanaka, T., Horikawa, R., Yamada, K., and Ogata, T. 2004. Genitourinary phenotype in XX patients with distal 9p monosomy. Mol Genet Metab 82: 173-179.
13. Ghymers, D., Hermann, B., Disteche, C., and Frederic, J. 1973. Partial tetrasomy of number 9 chromosome, and mosaicism in a child with multiple malformations. Humangenetik 20: 273-282.
14. Grass, F.S., Parke, J.C., Jr., Kirkman, H.N., Christensen, V., Roddey, O.F., Wade, R.V., Knutson, C., and Spence, J.E. 1993. Tetrasomy 9p: tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review. Am J Med Genet 47: 812-816.
15. Henriques-Coelho, T., Oliva-Teles, N., Fonseca-Silva, M.L., Tibboel, D., Guimaraes, H., and Correia-Pinto, J. 2005. Congenital diaphragmatic hernia in a patient with tetrasomy 9p. J Pediatr Surg 40: e29-31.
16. Ion, R., Telvi, L., Chaussain, J.L., Barbet, J.P., Nunes, M., Safar, A., Rethore, M.O., Fellous, M., and McElreavey, K. 1998. Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene. Hum Genet 102: 151-156.
17. Jalal, S.M., Kukolich, M.K., Garcia, M., Benjamin, T.R., and Day, D.W. 1991. Tetrasomy 9p: an emerging syndrome. Clin Genet 39: 60-64.
18. Kauschansky, A., Frydman, M., Nussinovitch, M., and Varsano, I. 2004. Evaluation of human chorionic gonadotropin stimulation tests in prepubertal and early pubertal boys. Eur J Pediatr 154: 890-892.
19. Lanfranco, F., Kamischke, A., Zitzmann, M., and Nieschlag, E. 2004. Klinefelter's syndrome. Lancet 364: 273-283.
20. Lloveras, E., Perez, C., Sole, F., Zamora, L., Lladonosa, A., Espinet, B., Silvestre, E., Serra, J., Vendrell, T., Fernandez, B., Salido, M., and Plaja, A. 2004. Two cases of tetrasomy 9p syndrome with tissue limited mosaicism. Am J Med Genet A 124: 402-406.
21. McAuliffe, F., Winsor, E.J., and Chitayat, D. 2005. Tetrasomy 9p mosaicism associated with a normal phenotype. Fetal Diagn Ther 20: 219-222.
22. Melaragno, M.I., Brunoni, D., Patricio, F.R., Corbani, M., Mustacchi, Z., dos Santos Rde, C., and Lederman, H.M. 1992. A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease. Ann Genet 35: 79-84.
23. Muroya, K., Okuyama, T., Goishi, K., Ogiso, Y., Fukuda, S., Kameyama, J., Sato, H., Suzuki, Y., Terasaki, H., Gomyo, H., Wakui, K., Fukushima, Y., and Ogata, T. 2000. Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases. J Clin Endocrinol Metab 85: 3094-3100.
24. Nakamura, Y., Sato, E., Sakai, K., Sakuma, S., Hashimoto, T., and Sindou, S. 1990. Abnormal chromosome 9 in a neonate program. Report of three cases. Arch Pathol Lab Med 114: 185-187.
25. Ogata, T., Muroya, K., Ohashi, H., Mochizuki, H., Hasegawa, T., and Kaji, M. 2001. Female gonadal development in XX patients with distal 9p monosomy. Eur J Endocrinol 145: 613-617.
26. Orye, E., Verhaaren, H., Van Egmond, H., and Devloo-Blancquaert, A. 1975. A new case of the trisomy 9P syndrome. Report of a patient with unusual chromosome findings (46,XX/47,XX, + i (9p) and a peculiar congenital heart defect. Clin Genet 7: 134-143.
27. Papenhausen, P., Riscile, G., Miller, K., Kousseff, B., and Tedesco, T. 1990. Tissue limited mosaicism in a patient with tetrasomy 9p. Am J Med Genet 37: 388-391.
28. Peters, J., Pehl, C., Miller, K., and Sandlin, C.J. 1982. Case report of mosaic partial tetrasomy 9 mimicking Klinefelter syndrome. Birth Defects Orig Artic Ser 18: 287-293.
29. Raymond, C.S., Parker, E.D., Kettlewell, J.R., Brown, L.G., Page, D.C., Kusz, K., Jaruzelska, J., Reinberg, Y., Flejter, W.L., Bardwell, V.J., Hirsch, B., and 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.
30. Rutten, F.J., Scheres, J.M., Hustinx, T.W., and ter Haar, B.G. 1974. A presumptive tetrasomy for the short arm of chromosome 9. Humangenetik 25: 163-170.
31. Schaefer, G.B., Domek, D.B., Morgan, M.A., Muneer, R.S., and Johnson, S.F. 1991. Tetrasomy of the short arm of chromosome 9: prenatal diagnosis and further delineation of the phenotype. Am J Med Genet 38: 612-615.
32. Stumm, M., Tonnies, H., Mandon, U., Gotze, A., Krebs, P., and Wieacker, P.F. 1999. Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies. Eur J Pediatr 158: 571-575.
33. Tang, W., Boyd, B.K., Hummel, M., and Wenger, S.L. 2004. Prenatal diagnosis of tetrasomy 9p. Am J Med Genet A 126: 328.
34. Tonk, V.S. 1997. Moving towards a syndrome: a review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival. Clin Genet 52: 23-29.
35. Van Hove, J., Kleczkowska, A., De Bruyn, M., Bekaert, J., and Fryns, J.P. 1994. Tetrasomy 9p: prenatal diagnosis and fetopathological findings in a second trimester male fetus. Ann Genet 37: 139-142.
36. Veitia, R.A., Salas-Cortes, L., Ottolenghi, C., Pailhoux, E., Cotinot, C., and Fellous, M. 2001. Testis determination in mammals: more questions than answers. Mol Cell Endocrinol 179: 3-16.
37. Verheij, J.B., Bouman, K., van Lingen, R.A., van Lookeren Campagne, J.G., Leegte, B., van der Veen, A.Y., Hofstra, R.M., Buys, C.H., and van Essen, A.J. 1999. Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22. Am J Med Genet 86: 168-173.
38. Vialard, F., Ottolenghi, C., Gonzales, M., Choiset, A., Girard, S., Siffroi, J.P., McElreavey, K., Vibert-Guigue, C., Sebaoun, M., Joye, N., Portnoi, M.F., Jaubert, F., and 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.