K. Prabhakara , Herman E. Wyandt , Xin L. Huang , K.Suma Prasad , A.Radha Ramadevi
{"title":"复发近端18p单体和18q三体在一个家庭与母亲18号染色体的中心反转","authors":"K. Prabhakara , Herman E. Wyandt , Xin L. Huang , K.Suma Prasad , A.Radha Ramadevi","doi":"10.1016/j.anngen.2004.03.007","DOIUrl":null,"url":null,"abstract":"<div><p>We report a recurrent partial monosomy of 18p10→11.2 and proximal partial trisomy of 18q10→21.3 caused by a maternal pericentric inversion of chromosome 18, involving breakpoints p11.2 and q21q21.3 Based on cytogenetics and FISH analysis, we speculate that the recurrent chromosome abnormality in the proband and in the fetus was the result of a translocation, possibly in a germ cell or germ cell precursor, between the maternal normal 18 and her inverted 18, resulting in maternal germinal mosaicism, i.e. 46,XX,inv(18)/46,XX,t[18;inv(18)][q10;q10]. The unbalanced karyotype of the proband and the fetus is 46,XY,+18,der[18;inv(18)][q10;q10]. To the best of our knowledge, there are no reports of this combination of proximal 18p monosomy and proximal 18q trisomy. The other interesting observation was association of Hirschsprung’s disease in the proband.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 3","pages":"Pages 297-303"},"PeriodicalIF":0.0000,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.03.007","citationCount":"8","resultStr":"{\"title\":\"Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18\",\"authors\":\"K. Prabhakara , Herman E. Wyandt , Xin L. Huang , K.Suma Prasad , A.Radha Ramadevi\",\"doi\":\"10.1016/j.anngen.2004.03.007\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>We report a recurrent partial monosomy of 18p10→11.2 and proximal partial trisomy of 18q10→21.3 caused by a maternal pericentric inversion of chromosome 18, involving breakpoints p11.2 and q21q21.3 Based on cytogenetics and FISH analysis, we speculate that the recurrent chromosome abnormality in the proband and in the fetus was the result of a translocation, possibly in a germ cell or germ cell precursor, between the maternal normal 18 and her inverted 18, resulting in maternal germinal mosaicism, i.e. 46,XX,inv(18)/46,XX,t[18;inv(18)][q10;q10]. The unbalanced karyotype of the proband and the fetus is 46,XY,+18,der[18;inv(18)][q10;q10]. To the best of our knowledge, there are no reports of this combination of proximal 18p monosomy and proximal 18q trisomy. The other interesting observation was association of Hirschsprung’s disease in the proband.</p></div>\",\"PeriodicalId\":100089,\"journal\":{\"name\":\"Annales de Génétique\",\"volume\":\"47 3\",\"pages\":\"Pages 297-303\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2004-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.anngen.2004.03.007\",\"citationCount\":\"8\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annales de Génétique\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0003399504000334\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales de Génétique","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0003399504000334","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18
We report a recurrent partial monosomy of 18p10→11.2 and proximal partial trisomy of 18q10→21.3 caused by a maternal pericentric inversion of chromosome 18, involving breakpoints p11.2 and q21q21.3 Based on cytogenetics and FISH analysis, we speculate that the recurrent chromosome abnormality in the proband and in the fetus was the result of a translocation, possibly in a germ cell or germ cell precursor, between the maternal normal 18 and her inverted 18, resulting in maternal germinal mosaicism, i.e. 46,XX,inv(18)/46,XX,t[18;inv(18)][q10;q10]. The unbalanced karyotype of the proband and the fetus is 46,XY,+18,der[18;inv(18)][q10;q10]. To the best of our knowledge, there are no reports of this combination of proximal 18p monosomy and proximal 18q trisomy. The other interesting observation was association of Hirschsprung’s disease in the proband.