{"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":1761718074700,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1984,4]]},"abstract":"<jats:p>A girl with a high and microbrachycephalic cranium (but without craniosynostosis), antimongoloid palpebral fissures, external strabismus, microsomy, a peculiarly shaped nose, soft tissue syndactyly in the right hand and both feet, and psychomotor retardation was found to have a deletion of chromosome 2 (q35----qter) and a Robertsonian translocation 13;14 inherited from her healthy father. The girl's phenotype is compared with the only other case reported involving a similar deletion.<\/jats:p>","DOI":"10.1136\/jmg.21.2.147","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"147-149","source":"Crossref","is-referenced-by-count":31,"title":["A case of deletion 2q35----qter and a peculiar phenotype."],"prefix":"10.1136","volume":"21","author":[{"given":"J M","family":"S\u00e1nchez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A M","family":"Pantano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1984,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1016\/S0022-3476(76)81050-5","article-title":"Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant pheniotype in a large Amish kindred","volume":"88","author":"Jackson, C.E.; Weiss, L.; Reynolds, W.A.; Forman, T.R.; Peterson, J.A.","year":"1976","unstructured":"Jackson CE, Weiss L, Reynolds WA, Forman TR, Peterson JA. Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant pheniotype in a large Amish kindred. J Pediatr 1976;88:963-8.","journal-title":"J Pediatr"},{"key":"ref_2","article-title":"Mendelian inheritanice in l?nan","author":"McKusick, V.","year":"1982","unstructured":"McKusick V. Mendelian inheritanice in l?nan. 6th ed. Baltimore: Johns Hopkins University Press, 1982.","edition":"6th ed"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","article-title":"A rapid banding techniique for human chromosomes","volume":"ii:","author":"Seabright, M.","year":"1971","unstructured":"Seabright M. A rapid banding techniique for human chromosomes. Lancet 1971;ii:971-2.","journal-title":"Lancet"},{"key":"ref_4","first-page":"74","article-title":"Interstitial deletion of long arm of chromosome No 2 in a girl with phenotype resembling the Seckel syndrome","volume":"32","author":"Jones, L.A.; Taysi, K.; Dengler, D.R.; Heersma, JR","year":"1980","unstructured":"Jones LA, Taysi K, Dengler DR, Heersma JR. Interstitial deletion of long arm of chromosome No 2 in a girl with phenotype resembling the Seckel syndrome. A,nJ Hiu,ni Genet 1980;32:74A."},{"key":"ref_5","first-page":"202","article-title":"Partial deletion of chromosome 2 mimicking a phenotype of trisomy 13: case report with autopsy. I-JImn Pathol","volume":"11","author":"McConnell, T.S.; Kornfeld, M.; McCle!lan, G.; Aase, J.","year":"1980","unstructured":"McConnell TS, Kornfeld M, McCle!lan G, Aase J. Partial deletion of chromosome 2 mimicking a phenotype of trisomy 13: case report with autopsy. I-JImn Pathol 1980;11:202-5."},{"key":"ref_6","first-page":"439","article-title":"De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn karyotype 46, XY, del(2)(ql 2ql4)","volume":"19","author":"Antich, J.; Carbonell, X.; Clusellas, N.","year":"1981","unstructured":"Antich J, Carbonell X, Clusellas N. De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn karyotype 46,XY,del(2)(ql 2ql4). Clin Genet 1981; 19:439.","journal-title":"Clin Genet"},{"key":"ref_7","first-page":"156","article-title":"Partial monosomy of chromosome 2. Delineable syndrome of deletion 2(q23q 1)","volume":"25","author":"Shabtai, F.; Klar, D.; Halbrecht, I.","year":"1982","unstructured":"Shabtai F, Klar D, Halbrecht I. Partial monosomy of chromosome 2. Delineable syndrome of deletion 2(q23q 1). Anin Gentet (Paris) 1982;25:156-8.","journal-title":"Anin Gentet (Paris)"},{"key":"ref_8","first-page":"225","article-title":"Etude chromosomique et clinique d'une fillette porteuse d'une deletion (2)(q34 q36)","volume":"32","author":"Warter, S.; Lausecker, C.H.; Pennerath, A.","year":"1976","unstructured":"Warter S, Lausecker CH, Pennerath A. Etude chromosomique et clinique d'une fillette porteuse d'une deletion (2)(q34 q36). Hi,,mi Genet 1976;32:225-7."},{"article-title":"Amniocentesis was performed upon a 24 year old primigravida at 161 weeks' gestation as she had spina bifida occulta and was anxious. The fetal chromosome complement was 46, XX,13p+. Chromosome analysis of the parents' blood revealed the mother to be carrying a pericentric inversion of chromosome 13, inv(l 3)(pl 3q22) and the father's Received for publication","year":"1983","key":"ref_9","unstructured":"Amniocentesis was performed upon a 24 year old primigravida at 161 weeks' gestation as she had spina bifida occulta and was anxious. The fetal chromosome complement was 46,XX,13p+. Chromosome analysis of the parents' blood revealed the mother to be carrying a pericentric inversion of chromosome 13, inv(l 3)(pl 3q22) and the father's Received for publication 7 June 1983. Accepted for publication 9 June 1983."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.21.2.147","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:16:49Z","timestamp":1760732209000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.21.2.147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,4]]},"references-count":9,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1984,4,1]]},"published-print":{"date-parts":[[1984,4]]}},"alternative-id":["10.1136\/jmg.21.2.147"],"URL":"https:\/\/doi.org\/10.1136\/jmg.21.2.147","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1984,4]]}}}