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In this report an infant is described who was externally male but with female rudimentary internal organs and whose karyotype was 47,XX+22.<\/jats:p>","DOI":"10.1136\/fn.71.1.f57","type":"journal-article","created":{"date-parts":[[2008,10,31]],"date-time":"2008-10-31T17:55:51Z","timestamp":1225475751000},"page":"F57-F58","source":"Crossref","is-referenced-by-count":34,"title":["Trisomy 22 and intersex."],"prefix":"10.1136","volume":"71","author":[{"given":"R M","family":"Nicholl","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Grimsley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Butler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R W","family":"Palmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H C","family":"Rees","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M O","family":"Savage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Costeloe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1994,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1136\/jmg.12.2.193","article-title":"Trisomy 22. Two near cases and delineation of the phenotype","volume":"12","author":"Penchasgadeh, V.B.; Coco, R.","year":"1975","unstructured":"Penchasgadeh VB, Coco R. Trisomy 22. Two near cases and delineation of the phenotype. J Med Genet 1975; 12: 193-9.","journal-title":"J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1136\/jmg.13.6.517","article-title":"Confirmation of trisomy 22 by trypsin-giemsa staining","volume":"13","author":"Begleiter, M.L.; Kularni, P.; Harris, D.J.","year":"1976","unstructured":"Begleiter ML, Kularni P, Harris DJ. Confirmation of trisomy 22 by trypsin-giemsa staining. J Med Genet 1976; 13: 517-20.","journal-title":"J Med Genet"},{"key":"ref_3","article-title":"Testicular endocrine function","volume-title":"Functional endocrinologic diagnostics in children and adolescents","author":"Savage, M.O.","year":"1992","unstructured":"Savage MO. Testicular endocrine function. In: Ranke MB, ed. Functional endocrinologic diagnostics in children and adolescents. Mannheim: I and J Verlag, 1992: 198-207."},{"key":"ref_4","first-page":"754","article-title":"Intersex States","volume-title":"Clinical endocrinology","author":"Savage, M.O.","year":"1992","unstructured":"Savage MO. Intersex States. In: Grossman A, ed. Clinical endocrinology. Oxford: Blackwell Scientific Publications, 1992: 754-62."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1136\/jmg.14.2.114","article-title":"Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy","volume":"14","author":"Kim, H.J.; Hsu, L.Y.F.; Goldsmith, L.C.; Strauss, L.; Hirschhorn, K.","year":"1977","unstructured":"Kim HJ, Hsu LYF, Goldsmith LC, Strauss L, Hirschhorn K. Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy. J Med Genet 1977; 14: 114-9.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1007\/BF00215675","article-title":"The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46, XX true hermaphroditism","volume":"88","author":"Berkovitz, G.D.; Fechner, P.Y.; Marcantonio, S.M.","year":"1992","unstructured":"Berkovitz GD, Fechner PY, Marcantonio SM, et al. The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46, XX true hermaphroditism. 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