{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T11:16:04Z","timestamp":1769858164936,"version":"3.49.0"},"reference-count":10,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1982,6]]},"abstract":"<jats:p>A mentally retarded male patient with a structurally abnormal X chromosome is reported (karyotype 46, dir dup (X)(p11.2 leads to p21.2)Y). In the normal mother a similar X chromosome duplication was found, which was preferentially inactivated. Xg blood groups were studied in the family. The findings indicated that recombination took place at maternal meiosis, as both karyotypically normal sons and the proband were Xg(a-), the mother being Xg(a+). Functional X chromosome disomy may explain clinical abnormalities in reported patients with X duplication and a normal Y chromosome.<\/jats:p>","DOI":"10.1136\/jmg.19.3.222","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"222-224","source":"Crossref","is-referenced-by-count":27,"title":["Inherited partial X chromosome duplication in a mentally retarded male."],"prefix":"10.1136","volume":"19","author":[{"given":"K B","family":"Nielsen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Langkjaer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1982,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00281002","article-title":"Abnormal X chromosome in man: origin, behavior and effects","volume":"25","author":"Therman, E.; Patau, K.","year":"1974","unstructured":"Therman E, Patau K. Abnormal X chromosome in man: origin, behavior and effects. Humangenetik 1974;25:1-16.","journal-title":"Humangenetik"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/BF00284761","article-title":"Structural aberrations of the X chromosome in man","volume":"41","author":"Davidenkova, E.F.; Verlinskaja, D.K.; Mashkova, M.V.","year":"1978","unstructured":"Davidenkova EF, Verlinskaja DK, Mashkova MV. Structural aberrations of the X chromosome in man. Hum Genet 1978;41:269-79.","journal-title":"Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1007\/BF00278986","article-title":"A duplicationdeficiency X chromosome in a girl with severe mental retardation","volume":"54","author":"Sacchi, N.; Dalpra, L.; Kehyayan, E.","year":"1980","unstructured":"Sacchi N, Dalpra L, Kehyayan E. A duplicationdeficiency X chromosome in a girl with severe mental retardation. Hum Genet 1980;54:279-81.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1007\/BF00291574","article-title":"Tandem duplication dup(X) (ql3q22) in a male proband inherited from the mother showing mosaicism of X-inactivation","volume":"54","author":"Steinbach, P.; Horstmann, W.; Scholz, W.","year":"1980","unstructured":"Steinbach P, Horstmann W, Scholz W. Tandem duplication dup(X) (ql3q22) in a male proband inherited from the mother showing mosaicism of X-inactivation. Hum Genet 1980;54:309-13.","journal-title":"Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1136\/jmg.17.4.291","article-title":"Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H-Y antigen and Xg blood group findings","volume":"17","author":"Bernstein, R.; Jenkin, T.; Dawson, B.","year":"1980","unstructured":"Bernstein R, Jenkin T, Dawson B, et al. Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H-Y antigen and Xg blood group findings. J Med Genet 1980; 17:291-300.","journal-title":"J Med Genet"},{"key":"ref_6","first-page":"35","article-title":"Sur quatre nouveaux cas de translocation du chromosome X chez l'homme","volume":"26","author":"Laurent, C.; Biemont, M.C.; Dutrillaux, B.","year":"1975","unstructured":"Laurent C, Biemont MC, Dutrillaux B. Sur quatre nouveaux cas de translocation du chromosome X chez l'homme. Humangenetik 1975;26:35-46.","journal-title":"Humangenetik"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1159\/000130780","article-title":"Replication pattern of the X chromosomes in three X\/autosomal translocations","volume":"18","author":"Hagemejer, A.; Hoovers, J.; Smit, E.M.E.; Bootsma, D.","year":"1977","unstructured":"Hagemejer A, Hoovers J, Smit EME, Bootsma D. Replication pattern of the X chromosomes in three X\/autosomal translocations. Cytogenet Cell Genet 1977; 18:333-48.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1038\/265142a0","article-title":"Presumptive evidence of two active X chromosomes in somatic cells of a human female","volume":"265","author":"Buhler, E.M.; Jurik, L.P.; Voyame, M.; Buhler, U.K.","year":"1977","unstructured":"Buhler EM, Jurik LP, Voyame M, Buhler UK. Presumptive evidence of two active X chromosomes in somatic cells of a human female. Nature 1977;265:142-4.","journal-title":"Nature"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/BF00278963","article-title":"A gene controlling H-Y antigen on the X chromosome","volume":"54","author":"Wolf, U.; Fraccaro, M.; Mayerova, A.; Hecht, T.; Marashio, P.; Hameister, H.","year":"1980","unstructured":"Wolf U, Fraccaro M, Mayerova A, Hecht T, Marashio P, Hameister H. A gene controlling H-Y antigen on the X chromosome. Hum Genet 1980;54:149-54.","journal-title":"Hum Genet"},{"key":"ref_10","article-title":"The proband, a newborn black male, was the 1820 g product of an uncomplicated term pregnancy. He was born to a 28-year-old gravida 3, para 0, abortis 2 mother. There was no history of smoking nor alcohol or drug abuse. Labour was spontaneous and delivery was vaginal with mid-forceps assistance. The infant was meconium-stained and subsequently received Received for publication 4","year":"1981","unstructured":"The proband, a newborn black male, was the 1820 g product of an uncomplicated term pregnancy. He was born to a 28-year-old gravida 3, para 0, abortis 2 mother. There was no history of smoking nor alcohol or drug abuse. Labour was spontaneous and delivery was vaginal with mid-forceps assistance. The infant was meconium-stained and subsequently received Received for publication 4 July 1981."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.19.3.222","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:22:49Z","timestamp":1759720969000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.19.3.222"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,6]]},"references-count":10,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1982,6,1]]},"published-print":{"date-parts":[[1982,6]]}},"alternative-id":["10.1136\/jmg.19.3.222"],"URL":"https:\/\/doi.org\/10.1136\/jmg.19.3.222","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1982,6]]}}}