{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:45:26Z","timestamp":1764171926722,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,3]]},"abstract":"<jats:p>We describe an 11 year old girl with a de novo unbalanced t(X;10) that resulted in a deletion of Xq26--&gt;Xqter and a trisomy of 10q21--&gt;10qter. Her clinical features were of distal trisomy 10q, but she lacked the cardiovascular and renal malformations observed in duplications of 10q24--&gt;10qter and had only moderate mental retardation. X inactivation was assessed on peripheral blood lymphocytes by late replication with BrdU (LR) and the human androgen receptor assay (HAR). By LR the der(X) was inactive without spreading to 10q21--&gt;10qter in all cells. The HAR assay showed skewed methylation of the paternal allele (90%). The correlation of HAR and LR suggests that the der(X) was paternally inherited and is consistent with data from other de novo balanced and unbalanced X;autosome translocations detected in females. This is the first report of parental origin of a de novo trisomy 10q.<\/jats:p>","DOI":"10.1136\/jmg.34.3.242","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"242-245","source":"Crossref","is-referenced-by-count":20,"title":["De novo der(X)t(X;10)(q26;q21) with features of distal trisomy 10q: case report of paternal origin identified by late replication with BrdU and the human androgen receptor assay (HAR)."],"prefix":"10.1136","volume":"34","author":[{"given":"J","family":"Garcia-Heras","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S F","family":"Witchel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Scacheri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,3,1]]},"reference":[{"key":"ref_1","first-page":"1229","article-title":"Methylation of Hpall and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor because such an event can be a mendelian trait in a few families\" and approximately 10% of normal females have shown this pattern by the gene Hum correlates with X chromosome Genet","volume":"51","author":"Allen, R.C.; Zoghbi, H.Y.; Moseley, A.B.; Rosenblatt, H.M.; Belmont, J.W.","year":"1992","unstructured":"Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of Hpall and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor because such an event can be a mendelian trait in a few families\" and approximately 10% of normal females have shown this pattern by the gene Hum correlates with X chromosome Genet 1992;51:1229-39."},{"key":"ref_2","first-page":"405","article-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel, A.","year":"1983","unstructured":"Schinzel A. Catalogue of unbalanced chromosome aberrations in man. Berlin: Walter de Gruyter, 1983:405-10."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1111\/j.1399-0004.1987.tb03325.x","article-title":"Proximal duplication of the long arm of chromosome 10 afterwards the somatic cells with an inactive (lOql 1.2-*10q22): a distinct clinical entity","volume":"32","author":"Fryns, J.P.; Kleczkowska, A.; Igodt-Ameye, L.; Van den Berghe, H.","year":"1987","unstructured":"Fryns JP, Kleczkowska A, Igodt-Ameye L, Van den Berghe H. Proximal duplication of the long arm of chromosome 10 afterwards the somatic cells with an inactive (lOql 1.2-*10q22): a distinct clinical entity. Clin Genet 1987;32:61-5.","journal-title":"Clin Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1002\/ajmg.1320500202","article-title":"Deletions Xq and growth deficit: a review","volume":"50","author":"Geerkens, C.; Just, W.; Vogel, W.","year":"1994","unstructured":"Geerkens C, Just W, Vogel W. Deletions Xq and growth deficit: a review. Am J Med Genet 1994;50:105-13.","journal-title":"Am J Med Genet"},{"key":"ref_5","first-page":"49","article-title":"Skewed X-inactivation can be karyotype would have been more unbalanced inherited as a Mendelian trait in humans","volume":"57","author":"Hoffman, E.P.; Pegoraro, E.","year":"1995","unstructured":"Hoffman EP, Pegoraro E. Skewed X-inactivation can be karyotype would have been more unbalanced inherited as a Mendelian trait in humans. Am J Hum Genet and potentially lethal (monosomy of Xq26-*Xqter and trisomy of 1 Oq2 1 -*1 Oqter). Suppl 1995;57:A49.","journal-title":"Am; Hum Genet and potentially lethal (monosomy of Xq26-*Xqter and trisomy of 1 Oq2 1 -*1 Oqter"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1111\/j.1399-0004.1994.tb04163.x","article-title":"X; 1 translocation in a female Menkes patient: balanced and unbalanced X; autosome translocations in females. 13-22 This suggests that the characterization by fluorescence in situ hybridization","volume":"46","author":"Beck, J.; Enders, H.; Schliephacke, M.; Buchwald-Saal, M.; Tumer, Z.","year":"1994","unstructured":"Beck J, Enders H, Schliephacke M, Buchwald-Saal M, Tumer Z. X;1 translocation in a female Menkes patient: balanced and unbalanced X;autosome translocations in females. 13-22 This suggests that the characterization by fluorescence in situ hybridization. Clin Genet 1994;46:295-8.","journal-title":"Clin Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"3931","DOI":"10.1002\/j.1460-2075.1991.tb04963.x","article-title":"Molecular paternal X is prone to rearrangements through abnormal mechanisms of breakage and recomanalysis of X-autosome translocations in females with Duchenne muscular dystrophy","volume":"10","author":"Bodrug, S.E.; Holden, J.J.A.; Ray, P.N.; Worton, R.E.","year":"1991","unstructured":"Bodrug SE, Holden JJA, Ray PN, Worton RE. Molecular paternal X is prone to rearrangements through abnormal mechanisms of breakage and recomanalysis of X-autosome translocations in females with Duchenne muscular dystrophy. EMBO J 1991;10:3931-9.","journal-title":"EMBO J"},{"key":"ref_8","first-page":"140","article-title":"Molecular studies bination. The unpaired regions of the X may synapse and recombine with autosomes during the initial stages of meiosis when heterologous of a translocated (X: 22) Di George patient using somatic cell hybridization","volume":"36","author":"Couillin, P.; Zucman, J.; Le Guern, E.","year":"1992","unstructured":"Couillin P, Zucman J, Le Guern E, et al. Molecular studies bination. The unpaired regions of the X may synapse and recombine with autosomes during the initial stages of meiosis when heterologous of a translocated (X:22) Di George patient using somatic cell hybridization. Ann Genet (Paris) 1992;36: 140-5.","journal-title":"Ann Genet (Paris)"},{"key":"ref_9","first-page":"725","article-title":"Common sequence motifs at the rearrangement sites of a constitutional X\/autosome translopairing is observed'6 or a postmeiotic noncation and associated deletion","volume":"50","author":"Giacalone, J.P.; Francke, U.","year":"1992","unstructured":"Giacalone JP, Francke U. Common sequence motifs at the rearrangement sites of a constitutional X\/autosome translopairing is observed'6 or a postmeiotic noncation and associated deletion. Am _7 Hum Genet 1992;50: 725-41.","journal-title":"Am _7 Hum Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1002\/ajmg.1320520105","article-title":"Molecular and cytogenetic studies of an X; autosome translocation in alleles at Xql 1.2-qi 2 correlates with the late a patient with premature ovarian failure and review of the replication status of the der(X). Both cases were de novo and late replicating and the literature","volume":"52","author":"Powell, C.M.; Taggart, R.T.; Drumheller, T.C.","year":"1994","unstructured":"Powell CM, Taggart RT, Drumheller TC, et al. Molecular and cytogenetic studies of an X;autosome translocation in alleles at Xql 1.2-qi 2 correlates with the late a patient with premature ovarian failure and review of the replication status of the der(X). Both cases were de novo and late replicating and the literature. Am JHum Genet 1994;52:19-26.","journal-title":"Am JHum Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/ajmg.1320370327","article-title":"Parental origin of de novo translocation in a patient with both an inherited and a de novo paternal HAR allele was methylated so their chromosome translocation","volume":"37","author":"Reilly, D.S.; Nussbaum, R.L.","year":"1990","unstructured":"Reilly DS, Nussbaum RL. Parental origin of de novo translocation in a patient with both an inherited and a de novo paternal HAR allele was methylated so their chromosome translocation. Am 7 Med Genet 1990;37:429-30.","journal-title":"Am 7 Med Genet"},{"key":"ref_12","first-page":"1133","article-title":"Localization of the translocaton breakpoint in a female with Menkes syndrome to Xql3.2-ql3.3 proximal to We thank the patient and the family for their cooperation in this study, Angela Leonard for the case management, Jose Bosch for his work in photography, Eric P Hoffman PhD for the helpful discussions, and Leslie Johnson for typing the manuscript","volume":"48","author":"Verga, V.; Hall, B.K.; Wang, S.; Johnson, S.; Higgins, J.V.; Glover, T.W.","year":"1991","unstructured":"Verga V, Hall BK, Wang S, Johnson S, Higgins JV, Glover TW. Localization of the translocaton breakpoint in a female with Menkes syndrome to Xql3.2-ql3.3 proximal to We thank the patient and the family for their cooperation in this study, Angela Leonard for the case management, Jose Bosch for his work in photography, Eric P Hoffman PhD for the helpful discussions, and Leslie Johnson for typing the manuscript. PGK-I. Am J Hum Genet 1991;48:1133-8.","journal-title":"PGK-I. Am J Hum Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/ajmg.1320560106","article-title":"Mild phenotypic effects of a de novo deletion Xpter-4Xp22.3 and duplication 3pter-43p23","volume":"56","author":"Kulharya, A.S.; Roop, H.; Kukolich, M.K.; Nachtman, R.G.; Belmont, J.W.; Garcia-Heras, J.","year":"1995","unstructured":"Kulharya AS, Roop H, Kukolich MK, Nachtman RG, Belmont JW, Garcia-Heras J. Mild phenotypic effects of a de novo deletion Xpter-4Xp22.3 and duplication 3pter-43p23. Am J Med Genet 1995;56: 16-21.","journal-title":"Am J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.34.3.242","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:41:40Z","timestamp":1760769700000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.34.3.242"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,3]]},"references-count":13,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1997,3,1]]},"published-print":{"date-parts":[[1997,3]]}},"alternative-id":["10.1136\/jmg.34.3.242"],"URL":"https:\/\/doi.org\/10.1136\/jmg.34.3.242","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1997,3]]}}}