{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:41:10Z","timestamp":1760726470424,"version":"build-2065373602"},"reference-count":12,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,3]]},"abstract":"<jats:p>True isochromosomes for Xp probably do not exist in a liveborn. We describe a rare case of complete Xp duplication and retention of the inactivation centre at Xq13. Cytogenetically, it is described as a nonmosaic 46,X,psu idic(X)(q13). Complete duplication of Xpter--&gt;Xq13 was confirmed by banded analysis and FISH probes for X centromere, Xp21, XIST locus, and whole chromosome paints for X and Y. The abnormal X was always late replicating. Clinically, the patient was short statured, had primary amenorrhoea, and incomplete development of secondary sexual characteristics, but otherwise was phenotypically normal. There are no non-mosaic reported cases with complete duplication of i(Xp) confirmed by FISH or molecular techniques. Those cases with partial duplication of Xp and presence of the inactivation centre share the traits of amenorrhoea and poor secondary sexual development. To develop a clinical profile of duplication of Xp (in presence of Xq13) there is a need to study more cases.<\/jats:p>","DOI":"10.1136\/jmg.33.3.237","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"237-239","source":"Crossref","is-referenced-by-count":8,"title":["Cytogenetic and clinical characteristics of a case involving complete duplication of Xpter--&gt;Xq13."],"prefix":"10.1136","volume":"33","author":[{"given":"S M","family":"Jalal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Dahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Erickson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Zimmerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Lindor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1007\/BF00289473","article-title":"The distribution of chromosomal genotype associated with Turner's syndrome: livebirth prevalence rates and evidence ofdiminished fetal mortality and arm deletion and those described for p arm duplication in the earlier publications. severity in genotypes associated with structural X abnormalities or mosaicism","volume":"64","author":"Hook, E.B.; Warburton, D.","year":"1983","unstructured":"Hook EB, Warburton D. The distribution of chromosomal genotype associated with Turner's syndrome: livebirth prevalence rates and evidence ofdiminished fetal mortality and arm deletion and those described for p arm duplication in the earlier publications. severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 1983;64:24-7.","journal-title":"Hum Genet"},{"key":"ref_2","first-page":"148","article-title":"Isochromosome for the short arm of X: a human mosaic 45","volume":"7","author":"Fitzgerald, P.H.; Donald, R.A.","year":"1975","unstructured":"Fitzgerald PH, Donald RA. Isochromosome for the short arm of X: a human mosaic 45,X\/46,XXpi, Clin Genet 1975;7: 148-54."},{"key":"ref_3","first-page":"617","article-title":"Isochromosome for short arm of X with primary amenorrhea and pituitary tumor","volume":"3","author":"Keogh, E.J.; de Krester, D.M.; Fitzgerald, M.G.","year":"1973","unstructured":"Keogh EJ, de Krester DM, Fitzgerald MG. Isochromosome for short arm of X with primary amenorrhea and pituitary tumor. AustNZ3tMed 1973;3:617-9."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1007\/BF00284853","article-title":"46, XXip karyotype in a woman with normnal stature and gonadal dysgenesis without other congenital anomalies","volume":"20","author":"den Berghe H, Van; JP, Fryns; F, Devos","year":"1973","unstructured":"Van den Berghe H, Fryns JP, Devos F. 46,XXip karyotype in a woman with normnal stature and gonadal dysgenesis without other congenital anomalies. Humangenetik 1973; 20:163-6.","journal-title":"Humangenetik"},{"key":"ref_5","first-page":"361","article-title":"Center for Barr body condensation on the proximal part of Xq: a hypothesis","volume":"44","author":"Therman, E.; Sarto, G.E.; Patau, K.","year":"1974","unstructured":"Therman E, Sarto GE, Patau K. Center for Barr body condensation on the proximal part of Xq: a hypothesis. Chromosoma (Berl) 1974;44:361-6.","journal-title":"Chromosoma (Berl)"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1038\/349038a0","article-title":"A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome","volume":"349","author":"Brown, C.J.; Ballabio, A.; RupertJL","year":"1991","unstructured":"Brown CJ, Ballabio A, RupertJL, et al. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 1991;349:38-44.","journal-title":"Nature"},{"key":"ref_7","first-page":"98","article-title":"Method for sequential staining ofGTL-banded metaphases with fluorescent-labeled chromosome specific paint probes","volume":"46","author":"Jalal, S.M.; Law, M.E.; Christensen, E.R.; Spurbeck, J.L.; Dewald, G.W.","year":"1993","unstructured":"Jalal SM, Law ME, Christensen ER, Spurbeck JL, Dewald GW. Method for sequential staining ofGTL-banded metaphases with fluorescent-labeled chromosome specific paint probes. AmJ7Med Genet 1993;46:98-103."},{"key":"ref_8","first-page":"203","article-title":"Use of fluorescent in situ hybridization for marker chromosomes in congenital and neoplastic disorders","volume":"96","author":"Schad, C.R.; Kraker, W.A.; Jalal, S.M.","year":"1991","unstructured":"Schad CR, Kraker WA, Jalal SM, et al. Use of fluorescent in situ hybridization for marker chromosomes in congenital and neoplastic disorders. AmJ7Clin Pathol 1991;96:203-1 0.","journal-title":"AmJ7Clin Pathol"},{"key":"ref_9","first-page":"234","article-title":"Mosaicism 45, X\/46, X tdic(Xp: Xp) in a girl with short stature","volume":"33","author":"Abulhasan, S.J.; Teebi, A.S.; Zaki, M.; Hammad, I.; Ai-Awadi, S.A.; Krishna Murty, D.S.","year":"1990","unstructured":"Abulhasan SJ, Teebi AS, Zaki M, Hammad I, Ai-Awadi SA, Krishna Murty DS. Mosaicism 45,X\/46,X tdic(Xp:Xp) in a girl with short stature. Am Genet (Paris) 1990;33:234-8.","journal-title":"Am Genet (Paris)"},{"key":"ref_10","first-page":"175","article-title":"The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a otherwise without most stigmata associated with Turner syndrome. The clinical features of this case are remarkably identical to our patient. Our patient had some Turner-like features including short stature, hypogonadism with hypothesis. Hum Genet","volume":"85","author":"Therman, E.; Susman, B.","year":"1990","unstructured":"Therman E, Susman B. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a otherwise without most stigmata associated with Turner syndrome. The clinical features of this case are remarkably identical to our patient. Our patient had some Turner-like features including short stature, hypogonadism with hypothesis. Hum Genet 1990;85:175-83."},{"key":"ref_11","first-page":"498","article-title":"Isodicentric X chromosome in a patient with Turner syndrome-implications for localization of the X-inactivation center","volume":"87","author":"Pettigrew, A.L.; McCabe, E.R.B.; Elder, F.F.B.; Ledbetter, D.H.","year":"1991","unstructured":"Pettigrew AL, McCabe ERB, Elder FFB, Ledbetter DH. Isodicentric X chromosome in a patient with Turner syndrome-implications for localization of the X-inactivation center. Hum Genet 1991;87:498-502.","journal-title":"Hum Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1136\/jmg.16.4.278","article-title":"Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter--q2102 --pter)","volume":"16","author":"Daniel, A.; Saville, T.; Southall, D.B.","year":"1979","unstructured":"Daniel A, Saville T, Southall DB. Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter--q2102 --pter). JMed Genet 1979;16:278-84.","journal-title":"JMed Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.3.237","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:27:21Z","timestamp":1760725641000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.3.237"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,3]]},"references-count":12,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1996,3,1]]},"published-print":{"date-parts":[[1996,3]]}},"alternative-id":["10.1136\/jmg.33.3.237"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.3.237","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1996,3]]}}}