{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:45:23Z","timestamp":1764171923239,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,1]]},"abstract":"<jats:p>Amniocentesis and prenatal chromosome analysis were performed for advanced maternal age. The fetus was male with a paracentric inversion in the long arm of the X chromosome. The mother and a brother also carried the inversion. The pregnancy continued to term and the infant is developing normally at one year of age.<\/jats:p>","DOI":"10.1136\/jmg.25.1.52","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"52-53","source":"Crossref","is-referenced-by-count":6,"title":["Prenatal diagnosis of inv(X)(q12q28) in a male fetus."],"prefix":"10.1136","volume":"25","author":[{"given":"R L","family":"Neu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H S","family":"Brar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B J","family":"Koos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1111\/j.1399-0004.1977.tb00912.x","article-title":"Insertional translocation into the X chromosome of a 46, XY male","volume":"12","author":"Sparkes, R.S.; Salter, W.J.; Blaker, R.G.; Muller, H.M.","year":"1977","unstructured":"Sparkes RS, Salter WJ, Blaker RG, Muller HM. Insertional translocation into the X chromosome of a 46,XY male. Clin Genet 1977;12:114-8.","journal-title":"Clin Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/BF00295420","article-title":"Nullisomy for the distal portion of Xp in a male child with X\/Y translocation","volume":"39","year":"1977","unstructured":"Tiepolo L, Zuffardi 0, Rodewald A. Nullisomy for the distal portion of Xp in a male child with X\/Y translocation. Hum Genet 1977;39:277-81.","journal-title":"Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1136\/jmg.19.3.222","article-title":"Inherited partial X chromosome duplication in a mentally retarded male","volume":"19","author":"K, Br0ndum Nielsen; F, Langkjer","year":"1982","unstructured":"Br0ndum Nielsen K, Langkjer F. Inherited partial X chromosome duplication in a mentally retarded male. J Med Genet 1982;19:222-4.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/BF00272985","article-title":"A familial paracentric inversion: a short review of the current status","volume":"67","author":"Venter, P.A.; Dawson, B.; DuToit, J.L.","year":"1984","unstructured":"Venter PA, Dawson B, DuToit JL, et al. A familial paracentric inversion: a short review of the current status. Hum Genet 1984;67: 121-5.","journal-title":"Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1007\/BF00272986","article-title":"Reproductive outcomes of paracentric inversion carriers: report of a liveborn dicentric recombinant and literature review","volume":"67","author":"Mules, E.H.; Stamberg, J.","year":"1984","unstructured":"Mules EH, Stamberg J. Reproductive outcomes of paracentric inversion carriers: report of a liveborn dicentric recombinant and literature review. Hum Genet 1984;67:126-31.","journal-title":"Hum Genet"},{"key":"ref_6","article-title":"In 1975 Mulvihill and Smith' published a short case report which they entitled 'Another disorder with prenatal shortness of stature and premature aging'. There had been one previous report by Shepard2 in 1971 with a review of the same patient by Elliott3 in 1975. Both publications appeared in the Birth Defects series which is not easily accessible to many clinicians. A case recently seen, now the third, has prompted us to make the condition more widely known. The diagnosis was made using the London Computerised Dysmorphology Database by asking Received for publication","volume-title":"Revised version accepted for publication 10","year":"1986","unstructured":"In 1975 Mulvihill and Smith' published a short case report which they entitled 'Another disorder with prenatal shortness of stature and premature aging'. There had been one previous report by Shepard2 in 1971 with a review of the same patient by Elliott3 in 1975. Both publications appeared in the Birth Defects series which is not easily accessible to many clinicians. A case recently seen, now the third, has prompted us to make the condition more widely known. The diagnosis was made using the London Computerised Dysmorphology Database by asking Received for publication 20 October 1986. Revised version accepted for publication 10 December 1986."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.25.1.52","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:24:24Z","timestamp":1760732664000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.25.1.52"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,1]]},"references-count":6,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1988,1,1]]},"published-print":{"date-parts":[[1988,1]]}},"alternative-id":["10.1136\/jmg.25.1.52"],"URL":"https:\/\/doi.org\/10.1136\/jmg.25.1.52","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1988,1]]}}}