REFERENCES
Alfi, O., Donnell, G. N., Crandall, B. F., Derencsenyi, A., & Menon, R. (1973). Deletion of the short arm of chromosome # 9 (46,9p-). A new deletion syndrome. Annales de Genetique , 16 (1), 17–22.
Barbaro, M., Balsamo, A., Anderlid, B. M., Myhre, A. G., Gennari, M., Nicoletti, A., Pittalis, M. C., Oscarson, M., & Wedell, A. (2009). Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA Sweden. European Journal of Human Genetics , 17 (11), 1439–1447.
Bittel, D. C., Kibiryeva, N., Dasouki, M., Knoll, J. H. M., & Butler, M. G. (2006). A 9-year-old male with a duplication of chromosome 3p25.3p26.2: Clinical report and gene expression analysis.American Journal of Medical Genetics , 140 A (6), 573–579.
Flejter, W. L., 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. The American Journal of Human Genetics , 63 (3), 794–802.
Fryns, J. P., Kleczkowska, A., Casaer, P., & Van Den Berghe, H. (1986). Double autosomal chromosomal aberration (3p trisomy/9p monosomy) and sex reversal. Annales de Genetique , 29 (1), 49–52.
Game, K., Friedman, J. M., & Kalousek, D. K. (1990). Mild phenotypic abnormalities in combined del 9p2 and dup 3p2. American Journal of Medical Genetics , 35 (3), 370–372.
Guioli, S., Schmitt, K., Critcher, R., Bouzyk, M., Spurr, N. K., Ogata, T., Hoo, J. J., Pinsky, L., Gimelli, G., Pasztor, L., & Goodfellow, P. N. (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. The American Journal of Human Genetics ,63 (3), 905–908.
Hauge, X., Raca, G., Cooper, S., May, K., Spiro, R., Adam, M., & Martin, C. L. (2008). Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p.Genetics in Medicine , 10 (8), 599–611.
Huret, J. L., Leonard, C., Forestier, B., Rethore, M. O., & Lejeune, J. (1988). Eleven new cases of del(9p) and features from 80 cases. InJournal of Medical Genetics (Vol. 25, Issue 11, pp. 741–749). BMJ Publishing Group.
Macdonald, J., Kilcoyne, K. R., Sharpe, R. M., Kavanagh, Á., Anderson, R. A., Brown, P., Smith, L. B., Jørgensen, A., & Mitchell, R. T. (2018). DMRT1 repression using a novel approach to genetic manipulation induces testicular dysgenesis in human fetal gonads. Human Reproduction , 33 (11), 2107–2121.
McClure, R. J., Telford, N., & Newell, S. J. (1996). A mild phenotype associated with der(9)t(3;9) (p25;p23). Journal of Medical Genetics , 33 (7), 625–627.
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 1. J. Clin. Endocrinol. Metab. 85: 3094–3100.
Murphy MW, Lee JK, Rojo S, Gearhart MD, Kurahashi K, Banerjee S, Loeuille G-A, Bashamboo A, McElreavey K, Zarkower D, Aihara H, Bardwell VJ. 2015. An ancient protein-DNA interaction underlying metazoan sex determination. Nat. Struct. Mol. Biol. 22: 442–451.
Natera-de Benito, D., García-Pérez, M. A., Martínez-Granero, M. Á., & Izquierdo-López, L. (2014). A patient with a duplication of chromosome 3p (p24.1p26.2): A comparison with other partial 3p trisomies.American Journal of Medical Genetics, Part A , 164 (2), 548–550.
Õunap, K., Uibo, O., Zordania, R., Kiho, L., Ilus, T., Õiglane-Shlik, E., & Bartsch, O. (2004). Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development. American Journal of Medical Genetics , 130 A (4), 415–423.
Quinonez, S. C., Park, J. M., Rabah, R., Owens, K. M., Yashar, B. M., Glover, T. W., & Keegan, C. 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.
Raymond CS. 2000. Dmrt1, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation. Genes Dev. 14: 2587–2595.
Smeets, E., Vandenbossche, L., & Fryns, J. P. (2001). Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features. Genetic Counseling , 12 (1), 85–89.
Swinkels, M. E. M., Simons, A., Smeets, D. F., Vissers, L. E., Veltman, J. A., Pfundt, R., de Vries, B. B. A., Faas, B. H. W., Schrander-Stumpel, C. T. R. M., McCann, E., Sweeney, E., May, P., Draaisma, J. M., Knoers, N. V., van Kessel, A. G., & van Ravenswaaij-Arts, C. M. A. (2008). Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.American Journal of Medical Genetics Part A , 146A (11), 1430–1438.
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 (2), 271–274.
Witters, I., Vermeesch, J. R., Moerman, P. H., & Fryns, J. P. (2004). Partial trisomy 3p/monosomy 9p with sex reversal. In Ultrasound in Obstetrics and Gynecology (Vol. 23, Issue 4, pp. 418–419).