{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T07:37:27Z","timestamp":1773733047763,"version":"3.50.1"},"reference-count":9,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,4]]},"abstract":"<jats:p>A structurally abnormal X chromosome was found in a nine year old girl with mild mental retardation and dysmorphic features. Subsequent clinical examination at 18 years of age showed tall stature and gonadal dysgenesis. Re-examination of her karyotype using a variety of banding techniques on prometaphase chromosomes allowed the identification of the abnormal chromosome as a duplication\/deficient X chromosome, 46,Xder X(pter----q28::p11.2----pter). The clinical features are discussed in terms of karyotype\/phenotype correlation.<\/jats:p>","DOI":"10.1136\/jmg.25.4.264","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"264-267","source":"Crossref","is-referenced-by-count":9,"title":["A duplication\/deficient X chromosome in a girl with mental retardation and dysmorphic features."],"prefix":"10.1136","volume":"25","author":[{"given":"I C","family":"Barnes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Curtis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S L","family":"Duncan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1007\/BF00291323","article-title":"Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency","volume":"61","author":"Nielson, L.B.; Boczkowski, K.; Mikkelsen, M.; Dahl, G.; Andersen, E.","year":"1982","unstructured":"Nielson LB, Boczkowski K, Mikkelsen M, Dahl G, Andersen E. Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency. Hum Genet 1982;61:12-7.","journal-title":"Hum Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/BF00286953","article-title":"Recombinant chromosome as a result of pericentric inversion of X chromosome","volume":"45","author":"Nikolis, J.; Stolevic, E.","year":"1978","unstructured":"Nikolis J, Stolevic E. Recombinant chromosome as a result of pericentric inversion of X chromosome. Hum Genet 1978;45: 115-22.","journal-title":"Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/BF00293879","article-title":"The phenotypic effects of small, distal Xq deletions","volume":"68","author":"Trunca, C.; Therman, E.; Rosenwaks, Z.","year":"1984","unstructured":"Trunca C, Therman E, Rosenwaks Z. The phenotypic effects of small, distal Xq deletions. Hum Gernet 1984;68:87-9.","journal-title":"Hum Gernet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1007\/BF00333520","article-title":"Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function","volume":"62","author":"Keitges, E.A.; Palmer, C.G.; Wcaver, D.D.","year":"1982","unstructured":"Keitges EA, Palmer CG, Wcaver DD. Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function. Hum Genet 1982;62:210-3.","journal-title":"Hum Genet"},{"key":"ref_5","first-page":"245","article-title":"Paracentric inversion in the long arm of chromosome X","volume":"23","year":"1983","unstructured":"Shabtai F, Kear D, Zohar 1, Halbrecht I. Paracentric inversion in the long arm of chromosome X. Clin Genet 1983;23:245-6.","journal-title":"Clin Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1136\/jmg.22.2.140","article-title":"De novo paracentric inversion in an X chromosome","volume":"22","author":"Herr, H.M.; Horton, S.J.; Scott, C.I.","year":"1985","unstructured":"Herr HM, Horton SJ, Scott CI. De novo paracentric inversion in an X chromosome. J Med Genet 1985;22:140-53.","journal-title":"J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1159\/000130299","article-title":"Familial X\/X translocation: t(X; X)(p22; ql3)","volume":"13","author":"Kim, H.J.; Hsu, L.Y.F.; Hirschhorn, K.","year":"1974","unstructured":"Kim HJ, Hsu LYF, Hirschhorn K. Familial X\/X translocation: t(X;X)(p22;ql3). Cytogenet Cell Genet 1974;13:454-64.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_8","article-title":"occasion bilateral cataracts were noted and at the age of seven months he underwent a surgical operation for these. At 13 months of age, he was admitted to our hospital because of growth and psychomotor retardation. On admission, physical In 1978, Martsolf et all described two brothers, born to consanguineous Jewish parents, with severe mental retardation, cataracts, short stature, and primary hypogonadism. Another Jewish family with the same syndrome has recently been described.2 We describe here a non-Jewish boy, to clarify the clinical picture of this syndrome further and to determine its mode of inheritance which is still uncertain","unstructured":"occasion bilateral cataracts were noted and at the age of seven months he underwent a surgical operation for these. At 13 months of age, he was admitted to our hospital because of growth and psychomotor retardation. On admission, physical In 1978, Martsolf et all described two brothers, born to consanguineous Jewish parents, with severe mental retardation, cataracts, short stature, and primary hypogonadism. Another Jewish family with the same syndrome has recently been described.2 We describe here a non-Jewish boy, to clarify the clinical picture of this syndrome further and to determine its mode of inheritance which is still uncertain."},{"key":"ref_9","article-title":"There was no family history of other congenital malformations. At three months of age, the patient was admitted to hospital because of bronchopneumonia and retardation of growth. On this Received for publication 5","year":"1986","unstructured":"There was no family history of other congenital malformations. At three months of age, the patient was admitted to hospital because of bronchopneumonia and retardation of growth. On this Received for publication 5 December 1986. Revised version accepted for publication 1 April 1987."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.25.4.264","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:14:35Z","timestamp":1760739275000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.25.4.264"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,4]]},"references-count":9,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1988,4,1]]},"published-print":{"date-parts":[[1988,4]]}},"alternative-id":["10.1136\/jmg.25.4.264"],"URL":"https:\/\/doi.org\/10.1136\/jmg.25.4.264","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,4]]}}}