{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T20:06:02Z","timestamp":1777320362815,"version":"3.51.4"},"reference-count":8,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,5]]},"abstract":"<jats:p>An infant who died of complications of osteogenesis imperfecta (OI) at 22 days of age had a 46,XY,inv(7)(p13q22) karyotype. His mother carried the same inversion. One breakpoint of the inversion was within the region of the gene for alpha 2(I) procollagen. The product of this gene is a component of type I collagen, the principal collagen synthesised by osteoblasts. Karyotypic abnormalities involving type I collagen gene sites have not previously been reported in association with OI.<\/jats:p>","DOI":"10.1136\/jmg.25.5.352","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"352-355","source":"Crossref","is-referenced-by-count":4,"title":["Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype."],"prefix":"10.1136","volume":"25","author":[{"given":"A S","family":"Knisely","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Richardson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Abuelo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Casey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D B","family":"Singer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,5,1]]},"reference":[{"issue":"74","key":"ref_1","first-page":"244","article-title":"Weights of organs of fetuses and infants","volume":"1962","author":"ISchulz, D.M.; Giordano, D.A.; Schulz, D.H.","unstructured":"ISchulz DM, Giordano DA, Schulz DH. Weights of organs of fetuses and infants. Arch Pathol 1962;74:244-50.","journal-title":"Arch Pathol"},{"key":"ref_2","first-page":"210","article-title":"Biochemical characterizations of human osteoblasts in culture","volume-title":"abnormal bone growth: basic and clinical research","author":"Aufmholk, B.; Schwartz, E.R.","year":"1985","unstructured":"Aufmholk B, Schwartz ER. Biochemical characterizations of human osteoblasts in culture. In: Dixon DA, Sarnat BG, eds. Normal and abnormal bone growth: basic and clinical research. New York: Alan R Liss, 1985: 210-4."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1159\/000132168","article-title":"The 1985 catalog of mapped genes and report of the nomenclature committee. HGM8","volume":"40","author":"McAlpine, P.J.; Shows, T.B.; Miller, R.L.; Pakstis, A.J.","year":"1985","unstructured":"McAlpine PJ, Shows TB, Miller RL, Pakstis AJ. The 1985 catalog of mapped genes and report of the nomenclature committee. HGM8. Cytogenet Cell Genet 1985;40:8-66.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_4","first-page":"503","article-title":"A propos d'un cas de fragilite tissulaire generalis&e avec caryotype inedit chez un enfant mort au cours d'une extraction spectaculaire. Bull Fed Soc Gynecol Obstet Lang Fr","volume":"23","author":"Richon, J.; Brunel, G.; Gilbenkrantz, A.; Masson, J.M.","year":"1971","unstructured":"Richon J, Brunel G, Gilbenkrantz A, Masson JM. A propos d'un cas de fragilite tissulaire generalis&e avec caryotype inedit chez un enfant mort au cours d'une extraction spectaculaire. Bull Fed Soc Gynecol Obstet Lang Fr 1971;23:503-5."},{"key":"ref_5","first-page":"1543","article-title":"L'osteogenesi imperfetta (forma precoce di Vroelik). Osservazione clinica di un caso con studio biochemico e genetico","volume":"20","author":"Ninatti, G.P.; Patriarca, P.L.","year":"1968","unstructured":"Ninatti GP, Patriarca PL. L'osteogenesi imperfetta (forma precoce di Vroelik). Osservazione clinica di un caso con studio biochemico e genetico. Minerva Pediatr 1968;20:1543-54.","journal-title":"Minerva Pediatr"},{"key":"ref_6","first-page":"245","article-title":"Prstenasti khromosom 18 i osteogenesis imperfecta u porodizhi u kojoj se javljaju spontani pobacaji","volume":"107","author":"Markovic, S.; Adici, S.; Mijin, K.; Radojkovic, Z.; Lopicic, L.","year":"1979","unstructured":"Markovic S, Adici S, Mijin K, Radojkovic Z, Lopicic L. Prstenasti khromosom 18 i osteogenesis imperfecta u porodizhi u kojoj se javljaju spontani pobacaji. Srp Arh Celok Lek 1979;107:245-52.","journal-title":"Srp Arh Celok Lek"},{"key":"ref_7","first-page":"335","article-title":"Report of two new cases","volume":"28","year":"1975","unstructured":"Report of two new cases. Humangenetik 1975;28:335-42.","journal-title":"Humangenetik"},{"key":"ref_8","first-page":"\"7721","article-title":"Synthesis of a shortened pro-a2(I) chain and decreased synthesis of pro-a2(l) chains in a proband with osteogenesis imperfecta","volume":"258","author":"M-L, Williams C.J.; G, Pepe; JL, Hirsch; DJ, Prockop; F, Ramirez","year":"1983","unstructured":"Synthesis of a shortened pro-a2(I) chain and decreased synthesis of pro-a2(l) chains in a proband with osteogenesis imperfecta. J Biol Chem 1983;258:7721-8. 9Chu M-L, Williams CJ, Pepe G, Hirsch JL, Prockop DJ, Ramirez F. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature 1983;304:78-80.","journal-title":"J Biol Chem; Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.25.5.352","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:21:31Z","timestamp":1760768491000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.25.5.352"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,5]]},"references-count":8,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1988,5,1]]},"published-print":{"date-parts":[[1988,5]]}},"alternative-id":["10.1136\/jmg.25.5.352"],"URL":"https:\/\/doi.org\/10.1136\/jmg.25.5.352","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,5]]}}}