{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:11:57Z","timestamp":1760832717556,"version":"build-2065373602"},"reference-count":16,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1980,2]]},"abstract":"<jats:p>An 18-year-old boy with a male phenotype was examined because of testicular hypoplasia. Chromosome analysis using Q- and R-banding techniques and BUdR treatment showed a 47,XXX karotype, in both lymphocytes and fibroblasts. Cytogenetic problems raised by this case are discussed in relation to data from previous published reports.<\/jats:p>","DOI":"10.1136\/jmg.17.1.62","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"62-66","source":"Crossref","is-referenced-by-count":3,"title":["47,XXX chromosome constitution in a male."],"prefix":"10.1136","volume":"17","author":[{"given":"U","family":"Bigozzi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Simoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Montali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Dalpra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Rossella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Piazzini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Borghi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1980,2,1]]},"reference":[{"key":"ref_1","first-page":"3179","article-title":"Coloration par l'acridine orange de chromosomes prealamblement traites par le 5-bromodeoxiuridine (BrdU)","volume":"276","author":"B, I.Dutrillaux; C, Laurent; J, Couturier; J, Lejeune","year":"1973","unstructured":"I Dutrillaux B, Laurent C, Couturier J, Lejeune J. Coloration par l'acridine orange de chromosomes prealamblement traites par le 5-bromodeoxiuridine (BrdU). C R Acad Sci (Paris) 1973;276:3179-81.","journal-title":"C R Acad Sci (Paris)"},{"key":"ref_2","first-page":"25","article-title":"XX sex chromosomes in a human male: first case","volume":"412","author":"de la Chapelle A; H, Hortling; M, Niemi; J, Wemistrom","year":"1964","unstructured":"de la Chapelle A, Hortling H, Niemi M, Wemistrom J. XX sex chromosomes in a human male: first case. Acta Med Scand 1964;412:25-38.","journal-title":"Acta Med Scand"},{"key":"ref_3","first-page":"71","article-title":"Nature and origin of males with XX sex chromosomes","volume":"24","author":"de la Chapelle A","year":"1972","unstructured":"de la Chapelle A. Nature and origin of males with XX sex chromosomes. Am J Hum Genet 1972;24:71-105.","journal-title":"Am J Hum Genet"},{"key":"ref_4","article-title":"The aetiology of human XX males","volume-title":"V International Congress of Human Genetics; International Congress Series, No 397","author":"de la Chapelle A","year":"1976","unstructured":"de la Chapelle A. The aetiology of human XX males. In: V International Congress of Human Genetics, Mexico. Amsterdam: Excerpta Medica, 1976. International Congress Series, No 397."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1111\/j.1399-0004.1975.tb00312.x","article-title":"An XX male: cytogenetic and endocrine studies","volume":"7","author":"Rios, M.E.; Kaufman, R.L.; Sekhon, G.S.; Bucy, J.C.; Bauman, J.E.; Jacobs, L.S.","year":"1975","unstructured":"Rios ME, Kaufman RL, Sekhon GS, Bucy JC, Bauman JE, Jacobs LS. An XX male: cytogenetic and endocrine studies. 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Hum Genet 1976;34: 119-24.","journal-title":"Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/BF00291496","article-title":"Chromosome measurement of an XXp + male","volume":"32","author":"Madan, K.","year":"1976","unstructured":"Madan K. Chromosome measurement of an XXp + male. Hum Genet 1976;32:141-2.","journal-title":"Hum Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1056\/NEJM197609302951403","article-title":"Serologic detection of a Y-linked gene in XX males and XX true hermaphrodites","volume":"295","author":"Wachtel, S.S.; Koo, G.C.; Breg, W.R.","year":"1976","unstructured":"Wachtel SS, Koo GC, Breg WR, et al. Serologic detection of a Y-linked gene in XX males and XX true hermaphrodites. N Engl J Med 1976;295:750-4.","journal-title":"N Engl J Med"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1016\/S0140-6736(66)92778-4","article-title":"X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome","volume":"2","author":"Ferguson-Smith, M.A.","year":"1966","unstructured":"Ferguson-Smith MA. X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet 1966;2:475-6.","journal-title":"Lancet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1111\/j.1399-0004.1977.tb01285.x","article-title":"Two XX males in one family and additional observations bearing on the etiology of XX males","volume":"11","author":"de la Chapelle A; J, Schr6der; J, Murros; G, Tallqvist","year":"1977","unstructured":"de la Chapelle A, Schr6der J, Murros J, Tallqvist G. Two XX males in one family and additional observations bearing on the etiology of XX males. Clin Genet 1977; 11:91-106.","journal-title":"Clin Genet"},{"key":"ref_12","first-page":"\"576","article-title":"An adult phenotypic male with a 46, XX chromosome complement","volume":"31","author":"Powers, H.O.; Neu, R.L.; Smulyan, H.; Gardner, L.I.","year":"1970","unstructured":"Powers HO, Neu RL, Smulyan H, Gardner LI. An adult phenotypic male with a 46,XX chromosome complement. J Clin Endocrinol Metab 1970;31:576-9. Is Bartsch-Sandhoff M, Schade H, Wiegelmann W, Solbach H, Scholz W. Ein Beitrag zur Geneses von XX-Manner. Humangenetik 1974;21:245-53.","journal-title":"J Clin Endocrinol Metab; Beitrag zur Geneses von XX-Manner"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2505","DOI":"10.1001\/jama.1976.03270230027022","article-title":"Y-chromosomal genes in a phenotypic male with a 46, XX karyotype","volume":"236","author":"Dosik, H.; Wachtel, S.S.; Khan, F.; Spergel, G.; Koo, G.C.","year":"1976","unstructured":"Dosik H, Wachtel SS, Khan F, Spergel G, Koo GC. Y-chromosomal genes in a phenotypic male with a 46,XX karyotype. JAMA 1976;236:2505-8.","journal-title":"JAMA"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/BF00277581","article-title":"Mosaicism in XX males","volume":"45","author":"Mirb, R.; Caballin, M.R.; Marina, S.; Egozcue, J.","year":"1978","unstructured":"Mirb R, Caballin MR, Marina S, Egozcue J. Mosaicism in XX males. Hum Genet 1978;45:103-6.","journal-title":"Hum Genet"},{"key":"ref_15","first-page":"152","article-title":"Testing mosaicism in a XX male","volume":"21","author":"Pawlowitzki, J.H.; Holzgreve, W.; Kovary, M.; Niermann, H.; Scholz, W.","year":"1978","unstructured":"Pawlowitzki JH, Holzgreve W, Kovary M, Niermann H, Scholz W. Testing mosaicism in a XX male. Ann Genet 1978;21:152-6."},{"key":"ref_16","unstructured":"The proband (fig 1) was born in January 1975 after an uneventful pregnancy; the mother was 24 and the father 30 years old. The mother has two daughters, born in 1972 and 1978, and one son born in 1973, all of whom are normal. The parents are unrelated. The boy was small (birthweight 2780 g, height 48 cm, head circumference 34 5 cm). He was hypotonic and cyanotic after birth, needing oxygen for 6 hours. Apgar score at 1 minute was 8. Physical examination showed right-sided cryptorchidism. He had a peculiar facial appearance and poorly formed ears. Routine laboratory tests were normal.","article-title":"The proband (fig 1) was born in January 1975 after an uneventful pregnancy; the mother was 24 and the father 30 years old. The mother has two daughters, born in 1972 and 1978, and one son born in 1973, all of whom are normal. The parents are unrelated. The boy was small (birthweight 2780 g, height 48 cm, head circumference 34 5 cm). He was hypotonic and cyanotic after birth, needing oxygen for 6 hours. Apgar score at 1 minute was 8. Physical examination showed right-sided cryptorchidism. He had a peculiar facial appearance and poorly formed ears. Routine laboratory tests were normal"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.17.1.62","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:17:21Z","timestamp":1760764641000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.17.1.62"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,2]]},"references-count":16,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1980,2,1]]},"published-print":{"date-parts":[[1980,2]]}},"alternative-id":["10.1136\/jmg.17.1.62"],"URL":"https:\/\/doi.org\/10.1136\/jmg.17.1.62","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1980,2]]}}}