{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:54Z","timestamp":1761718074638,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,7]]},"abstract":"<jats:p>A 28 month old girl with dysmorphic features was found to have an interstitial deletion of the short arm of chromosome 7p15.3-7p21.2. The patient had ptosis, dacryostenosis, pectus excavatum, short hands, and her development was normal or mildly delayed. Craniosynostosis and growth retardation, which were present in two other patients with similar deletions, were not present. Because of the mild manifestations, this case expands the clinical spectrum of the 7p15-7p21 deletion phenotype.<\/jats:p>","DOI":"10.1136\/jmg.30.7.610","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"610-612","source":"Crossref","is-referenced-by-count":6,"title":["Mild phenotypic manifestation of a 7p15.3p21.2 deletion."],"prefix":"10.1136","volume":"30","author":[{"given":"C","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Maynard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T W","family":"Glover","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L G","family":"Biesecker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,7,1]]},"reference":[{"key":"ref_1","first-page":"323","article-title":"Chromosome 7 short arm deletion, 7p2 1-pter","volume":"74","author":"Schomig-Spingler, M.; Schmid, M.; Brosi, W.; Grimm, T.","year":"1986","unstructured":"Schomig-Spingler M, Schmid M, Brosi W, Grimm T. Chromosome 7 short arm deletion, 7p2 1-pter. Hum Genet 1986;74:323-5.","journal-title":"Hum Genet"},{"key":"ref_2","first-page":"36","volume":"29","author":"Garcia-Esquivel, L.; Garcia-Cruz, D.; Rivera, H.; Plascencia, M.L.; Cantu, J.M.","year":"1986","unstructured":"Garcia-Esquivel L, Garcia-Cruz D, Rivera H, Plascencia ML, Cantu JM. De novo del(7)(pter-p21.2:pI5.2-qter) and craniosynostosis. Ann Genet (Paris) 1986;29:36-8.","journal-title":"Ann Genet (Paris)"},{"key":"ref_3","first-page":"160","article-title":"A craniosynostosis in a boy with a del( 7)(pl5.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p2l","volume":"71","author":"Motegi, T.; Ohuchi, M.; Ohtaki, C.","year":"1985","unstructured":"Motegi T, Ohuchi M, Ohtaki C, et al. A craniosynostosis in a boy with a del(7)(pl5.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p2l. Hum Genet 1985;71:160-2.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1148\/104.1.1","article-title":"Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations","volume":"104","author":"Poznanski, A.K.; Garn, S.M.; Nagy, J.M.; JC, Jr, Gall","year":"1972","unstructured":"Poznanski AK, Garn SM, Nagy JM, Gall JC Jr. Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations. Radiology 1972;104:1-1 1.","journal-title":"Radiology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1007\/BF00399394","article-title":"Terminal 7p deletion and 1; 7 translocation associated with craniosynostosis","volume":"50","author":"Dhadial, R.K.; Smith, M.F.","year":"1979","unstructured":"Dhadial RK, Smith MF. Terminal 7p deletion and 1;7 translocation associated with craniosynostosis. Hum Genet 1979;50:285-9.","journal-title":"Hum Genet"},{"key":"ref_6","first-page":"824","article-title":"Syndrome of 7pdeletion. Monatsschr Kinderheilkd","volume":"136","author":"Hinkel, G.K.; Tolkendorf, E.; Bergan, J.","year":"1988","unstructured":"Hinkel GK, Tolkendorf E, Bergan J. Syndrome of 7pdeletion. Monatsschr Kinderheilkd 1988;136:824-7."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/BF00295627","article-title":"Chromosome 7 short arm deletion and craniosynostosis. A 7psyndrome","volume":"35","author":"McPherson, E.; Hall, J.G.; Hickman, R.","year":"1976","unstructured":"McPherson E, Hall JG, Hickman R. Chromosome 7 short arm deletion and craniosynostosis. A 7psyndrome. Hum Genet 1976;35:117-23.","journal-title":"Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1002\/ajmg.1320040403","article-title":"Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15-7p2l","volume":"4","author":"Miller, M.; Kaufman, G.; Reed, G.; Bilenker, R.; Schinzel, A.","year":"1979","unstructured":"Miller M, Kaufman G, Reed G, Bilenker R, Schinzel A. Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15-7p2l. Am I Med Genet 1979;4:323-32.","journal-title":"Am I Med Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1136\/jmg.26.8.528","article-title":"deletion 7p22.1-pter in a child without craniosynostosis","volume":"26","author":"Speleman, F.; Craen, M.; novo terminal, Leroy J.De","year":"1989","unstructured":"Speleman F, Craen M, Leroy J. De novo terminal deletion 7p22.1-pter in a child without craniosynostosis. _7 Med Genet 1989;26:528-32.","journal-title":"_7 Med Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1136\/jmg.16.6.453","article-title":"Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities","volume":"16","author":"Md'A, Crawfurd; I, Kessel; M, Liberman; JA, McKeown; PY, Mandalia; MAC, Ridler","year":"1979","unstructured":"Crawfurd Md'A, Kessel I, Liberman M, McKeown JA, Mandalia PY, Ridler MAC. Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities. _7 Med Genet 1979;16:453-60.","journal-title":"_7 Med Genet"},{"key":"ref_11","first-page":"45","article-title":"De novo partial 2q3 trisomy\/distal 7p22 monosomy in a malformed newborn with 7p deletion phenotype and craniosynostosis","volume":"28","author":"Fryns, J.P.; Haspeslagh, M.; Agneessens, A.; Van Den Berghe, H.","year":"1985","unstructured":"Fryns JP, Haspeslagh M, Agneessens A, Van Den Berghe H. De novo partial 2q3 trisomy\/distal 7p22 monosomy in a malformed newborn with 7p deletion phenotype and craniosynostosis. Ann Genet (Paris) 1985;28:45-8.","journal-title":"Ann Genet (Paris)"},{"key":"ref_12","article-title":"Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes","author":"McKusick, V.A.","year":"1990","unstructured":"McKusick VA. Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes. 9th ed. Baltimore: Johns Hopkins University Press, 1990.","edition":"9th ed"},{"key":"ref_13","article-title":"Craniosynostosis and chromosome 7p: deletion analysis and linkage studies","volume-title":"1991 David W Smith workshop on malformations and morphogenesis","author":"Brueton, L.A.; Herweden, L.V.; Chotai, K.; Winter, R.M.","year":"1991","unstructured":"Brueton LA, Herweden LV, Chotai K, Winter RM. Craniosynostosis and chromosome 7p: deletion analysis and linkage studies. In: Graham JM, Hoyme HE, eds. 1991 David W Smith workshop on malformations and morphogenesis, 1991 (abstract)."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.7.610","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:49:46Z","timestamp":1759722586000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.7.610"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,7]]},"references-count":13,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1993,7,1]]},"published-print":{"date-parts":[[1993,7]]}},"alternative-id":["10.1136\/jmg.30.7.610"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.7.610","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1993,7]]}}}