{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T12:44:31Z","timestamp":1790858671815,"version":"4.1.0"},"reference-count":7,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,3]]},"abstract":"<jats:p>We report a family with an 18p trisomic mother and two 18p tetrasomic daughters. The mother is phenotypically normal and healthy, but with an unusual type of trisomy 18p: 47,XX,del(18)(pter----p11.21),+i(18p) de novo. The older sister has microcephaly, mental retardation, an asymmetrical and peculiar face with low set ears, pinched up nose, high arched palate, small mouth, micrognathia, tapering fingers, asymmetrical length of legs, and an asthenic body. The younger sister was stillborn with extensive defects of the skull, congenital hydrocephalus, severe facial anomalies, and lumbosacral meningocele. Both daughters have inherited one normal chromosome 18 and an isochromosome 18p from their mother, and one normal chromosome 18 from their father. Although one quite similar family has been reported, to the best of our knowledge there have been no reports of families in which two daughters with tetrasomy 18p syndrome have been born to a mother with trisomy 18p with isochromosomes.<\/jats:p>","DOI":"10.1136\/jmg.26.3.195","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"195-197","source":"Crossref","is-referenced-by-count":58,"title":["Sibs with tetrasomy 18p born to a mother with trisomy 18p."],"prefix":"10.1136","volume":"26","author":[{"given":"K","family":"Takeda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Okamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1989,3,1]]},"reference":[{"key":"ref_1","first-page":"187","article-title":"Tetrasomy 18p: a distinctive syndrome","volume":"27","author":"Rivera, H.; Moller, M.; Hernindez, A.; Enriquez-Guerra, M.A.; Arreola, R.; Cantui, J.M.","year":"1984","unstructured":"Rivera H, Moller M, Hernindez A, Enriquez-Guerra MA, Arreola R, Cantui JM. Tetrasomy 18p: a distinctive syndrome. Ann Genet (Paris) 1984;27:187-9.","journal-title":"Ann Genet (Paris)"},{"key":"ref_2","first-page":"111","article-title":"18p tetrasomy-further evidence for a distinctive clinical syndrome","volume":"28","author":"Fryns, J.P.; Kleczkowska, A.; Marien, P.; van den Berghe, H.","year":"1985","unstructured":"Fryns JP, Kleczkowska A, Marien P, van den Berghe H. 18p tetrasomy-further evidence for a distinctive clinical syndrome. Ann Genet (Paris) 1985;28:111-2.","journal-title":"Ann Genet (Paris)"},{"key":"ref_3","article-title":"Chromosome marker","author":"Lewis, K.R.; John, B.","year":"1963","unstructured":"Lewis KR, John B. Chromosome marker. London: Churchill, 1963."},{"key":"ref_4","first-page":"173","article-title":"Genet 1939; 37: 341-64. 5de la Chapelle A. How do human isochromosomes arise?","volume":"5","author":"Darlington, C.D.","year":"1982","unstructured":"Darlington CD. Misdivision and the genetics of the centromere. J Genet 1939;37:341-64. 5de la Chapelle A. How do human isochromosomes arise? Cancer Genet Cytogenet 1982;5:173-9.","journal-title":"Misdivision and the genetics of the centromere; Cancer Genet Cytogenet"},{"issue":"3","key":"ref_5","first-page":"1","article-title":"Autosomal anomalies in man","volume":"1969","author":"Nusbacher, J.; Hirschhorn, K.","unstructured":"Nusbacher J, Hirschhorn K. Autosomal anomalies in man. Adv Teratol 1969;3:1-63.","journal-title":"Adv Teratol"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/BF00291889","article-title":"Morphology alone does not make an isochromosome","volume":"72","author":"Schmutz, S.M.; Pino, E.","year":"1986","unstructured":"Schmutz SM, Pino E. Morphology alone does not make an isochromosome. Hum Genet 1986;72:253-5.","journal-title":"Hum Genet"},{"key":"ref_7","first-page":"291","article-title":"Origin of a small metacentric chromosome: familial and cytogenetic evidence","volume":"8","author":"Taylor, K.M.; Wolfinger, H.L.; Brown, M.G.; Chadwick, D.L.","year":"1975","unstructured":"Taylor KM, Wolfinger HL, Brown MG, Chadwick DL. Origin of a small metacentric chromosome: familial and cytogenetic evidence. Clin Genet 1975;8:291-5.","journal-title":"Clin Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.26.3.195","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:13:47Z","timestamp":1760728427000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.26.3.195"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,3]]},"references-count":7,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1989,3,1]]},"published-print":{"date-parts":[[1989,3]]}},"alternative-id":["10.1136\/jmg.26.3.195"],"URL":"https:\/\/doi.org\/10.1136\/jmg.26.3.195","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,3]]}}}