{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T05:30:51Z","timestamp":1761975051316,"version":"build-2065373602"},"reference-count":5,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1979,6]]},"abstract":"<jats:p>A 48,XXYY Sardinian patient, born to a 46,XX mother heterozygous for the Gd Mediterranean mutant, and to a 46,XY father hemizygous for the same mutant, was found to have a mosaic distribution of G6PD(+) and G6PD(-) peripheral red blood cells. The most likely interpretation of this finding is that the propositus is an additional example of an XXYY zygote derived from a consecutive meiotic non-disjunction during paternal gametogenesis.<\/jats:p>","DOI":"10.1136\/jmg.16.3.225","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"225-226","source":"Crossref","is-referenced-by-count":15,"title":["Additional pedigree supporting the frequent origin of XXYY from consecutive meiotic non-disjunction in paternal gametogenesis."],"prefix":"10.1136","volume":"16","author":[{"given":"A","family":"Rinaldi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Archidiacono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Rocchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Filippi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1979,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1159\/000129822","article-title":"Successive non-disjunction at first and second meiotic division of spermatogenesis: evidence of chromosomes and Xg","volume":"3","author":"De la Chapelle, A.; Hortling, H.; Sanger, R.; Race, R.R.","year":"1964","unstructured":"De la Chapelle, A., Hortling, H., Sanger, R., and Race, R. R. (1964). Successive non-disjunction at first and second meiotic division of spermatogenesis: evidence of chromosomes and Xg. Cytogenetics, 3, 334-341.","journal-title":"Cytogenetics"},{"key":"ref_2","first-page":"1427","article-title":"Paternal origin of an XXYY anomaly","volume":"1","author":"Pfeiffer, R.A.; Korver, G.; Sanger, R.; Race, R.R.","year":"1966","unstructured":"Pfeiffer, R. A., Korver, G., Sanger, R., and Race, R. R. (1966). Paternal origin of an XXYY anomaly. Lancet, 1, 1427-1428.","journal-title":"Lancet"},{"key":"ref_3","first-page":"496","article-title":"Variability of red cell phenotypes between and within individuals in an unbiased sample of 77 heterozygotes for G6PD deficiency in Sardinia","volume":"28","author":"Rinaldi, A.; Filippi, G.; Siniscalco, M.","year":"1976","unstructured":"Rinaldi, A., Filippi, G., and Siniscalco, M. (1976). Variability of red cell phenotypes between and within individuals in an unbiased sample of 77 heterozygotes for G6PD deficiency in Sardinia. American Journal of Human Genetics, 28, 496-505.","journal-title":"American Journal of Human Genetics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1136\/jmg.14.3.210","article-title":"Xg groups and sex chromosome abnormalities in people of northern European ancestry: an addendum","volume":"14","author":"Sanger, R.; Tippett, P.; Gavin, J.; Teesdale, P.; Daniels, G.L.","year":"1977","unstructured":"Sanger, R., Tippett, P., Gavin, J., Teesdale, P., and Daniels, G. L. (1977). Xg groups and sex chromosome abnormalities in people of northern European ancestry: an addendum. Journal ofMedical Genetics, 14, 210-211.","journal-title":"Journal ofMedical Genetics"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1111\/j.1469-1809.1966.tb00518.x","article-title":"Failure to detect linkage between Xg and other X-borne loci in Sardinians","volume":"29","author":"Siniscalco, M.; Filippi, G.; Latte, B.; Piomelli, S.; Rattazzi, M.; Gavin, J.; Sanger, R.; Race, R.R.","year":"1966","unstructured":"Siniscalco, M., Filippi, G., Latte, B., Piomelli, S., Rattazzi, M., Gavin, J., Sanger, R., and Race, R. R. (1966). Failure to detect linkage between Xg and other X-borne loci in Sardinians. Annals ofHuman Genetics, 29, 231-252.","journal-title":"Annals ofHuman Genetics"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.16.3.225","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:49:51Z","timestamp":1760737791000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.16.3.225"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,6]]},"references-count":5,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1979,6,1]]},"published-print":{"date-parts":[[1979,6]]}},"alternative-id":["10.1136\/jmg.16.3.225"],"URL":"https:\/\/doi.org\/10.1136\/jmg.16.3.225","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1979,6]]}}}