{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T05:03:07Z","timestamp":1788930187155,"version":"build-2803163510"},"reference-count":10,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,11]]},"abstract":"<jats:p>We report a 20 month old female patient with diploid-triploid mixoploidy (46,XX\/69,XXX) syndrome with hypothyroidism and precocious puberty. The triploid cell line was only expressed in the fibroblast culture and comprised the majority (95%) of the cells. Chromosome analysis of the fetal blood sample and peripheral blood sample were normal. The patient shows typical features of full triploidy (growth and severe mental retardation, cranial and facial dysmorphism, complete syndactyly of fingers 3\/4, partial syndactyly of toes 2\/3) and facial but no body asymmetry. At the age of 5 months central hypothyroidism and precocious puberty were diagnosed. Thin pigmented streaks were visible on the wrists and legs of the patient at the age of 16 months. This is the first patient reported so far with 46,XX\/69,XXX mixoploidy suffering from hypothyroidism and precocious puberty.<\/jats:p>","DOI":"10.1136\/jmg.30.11.966","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"966-967","source":"Crossref","is-referenced-by-count":22,"title":["46,XX\/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty."],"prefix":"10.1136","volume":"30","author":[{"given":"I E","family":"J\u00e4rvel\u00e4","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M K","family":"Salo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Santavuori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R K","family":"Salonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1993,11,1]]},"reference":[{"issue":"1","key":"ref_1","first-page":"1","article-title":"Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions","volume":"12","author":"Boue, J.; Boue, A.; Lazar, P.","year":"1975","unstructured":"Boue J, Boue A, Lazar P. Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. Teratology 1975;12:1 1-26.","journal-title":"Teratology"},{"key":"ref_2","first-page":"222","article-title":"Triploid-diploid mosaicism in a deeply mentally retarded adult","volume":"23","author":"Fryns, J.P.; Viken, L.; Geutjens, J.; Marien, J.; Deroover, J.; Van den Berghe, H.","year":"1980","unstructured":"Fryns JP, Viken L, Geutjens J, Marien J, Deroover J, Van den Berghe H. Triploid-diploid mosaicism in a deeply mentally retarded adult. Ann Genet (Paris) 1980;23:222-34.","journal-title":"Ann Genet (Paris)"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1542\/peds.68.1.23","article-title":"Diploidtriploid mixoploidy: clinical and cytogenetic aspect","volume":"68","author":"Graham, J.M.; Hoehn, H.; Lin, M.S.; Smith, D.W.","year":"1981","unstructured":"Graham JM, Hoehn H, Lin MS, Smith DW. Diploidtriploid mixoploidy: clinical and cytogenetic aspect. 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Monatschr Kinderheilkd 1988;136:206-9.","journal-title":"Monatschr Kinderheilkd"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1136\/jmg.25.12.809","article-title":"Hypomelanosis of Ito: a manifestation of mosaicism or chimerism","volume":"25","author":"Donnai D, Read AP, McKeown C, Andrews T","year":"1988","unstructured":"Donnai D, Read AP, McKeown C, Andrews T. Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. J Med Genet 1988;25:809-18.","journal-title":"J Med Genet"},{"key":"ref_9","article-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel, A.","year":"1984","unstructured":"Schinzel A. Catalogue of unbalanced chromosome aberrations in man. Berlin: de Gruyter, 1984."},{"key":"ref_10","first-page":"552","article-title":"Ovarian dysgenesis in individuals with chromosomal abnormalities","volume":"86","author":"Cunniff, C.; Jones, K.L.; Benirschke, K.","year":"1991","unstructured":"Cunniff C, Jones KL, Benirschke K. Ovarian dysgenesis in individuals with chromosomal abnormalities. 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