{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:40:23Z","timestamp":1787017223103,"version":"build-2736575974"},"reference-count":10,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,10]]},"abstract":"<jats:p>We report a female baby with multiple congenital anomalies including left upper amelia, congenital short bowel with malrotation and pseudo-obstruction, dextrocardia with situs solitus, patent ductus arteriosus, and a tiny atrophic spleen. Chromosome study showed de novo 46,XX\/46,XX,-4, + r(4)(p16--&gt;q22.3)\/47,XX,4, + r(4) (p16--&gt;q22.3), + del(4)(pter--&gt;q22.3:). The clinical findings in the patient were probably caused by the interaction of partial trisomy 4pter--&gt;q22.3 or 4p16--&gt;q22.3 and partial monosomy of 4q22.3--&gt;4qter. This karyotype and phenotype have not previously been reported.<\/jats:p>","DOI":"10.1136\/jmg.33.10.879","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"879-881","source":"Crossref","is-referenced-by-count":18,"title":["Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4."],"prefix":"10.1136","volume":"33","author":[{"given":"J W","family":"Hou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T R","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1002\/ajmg.1320560319","article-title":"Further study of genetic interactions: loss of short arm material in patients with ring chromosome 4 changes developmental pattern of del(4) (q33)","volume":"56","author":"Lurie, I.W.","year":"1995","unstructured":"Lurie IW Further study of genetic interactions: loss of short arm material in patients with ring chromosome 4 changes developmental pattern of del(4) (q33). Am J Med Genet 1995;56:308-1 1.","journal-title":"Am J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1136\/jmg.29.10.716","article-title":"Recognition of thalidomide defects","volume":"29","author":"Smithells, R.W.; Newman, C.G.H.","year":"1992","unstructured":"Smithells RW, Newman CGH. Recognition of thalidomide defects. Jf Med Genet 1992;29:716-23.","journal-title":"Jf Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1002\/ajmg.1320420338","article-title":"Distal limb deficiency following chorionic villus sampling?","volume":"42","author":"Schloo, R.; Ming, P.; Holzgreve, W.; Horst, J.; Lenz, W.","year":"1992","unstructured":"Schloo R, Ming P, Holzgreve W, Horst J, Lenz W. Distal limb deficiency following chorionic villus sampling? Am J Med Genet 1992;42:404-13.","journal-title":"Am J Med Genet"},{"key":"ref_4","first-page":"5266","article-title":"Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry","volume":"49","author":"Evans, J.A.; Vitez, M.; Czeizel, A.","year":"1975","unstructured":"Evans JA, Vitez M, Czeizel A. Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984). Am J Med Genet 1994;49:5266.","journal-title":"Am J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1055\/s-2007-994705","article-title":"Prenatal sonographic diagnosis of isolated distal amelia of an upper extremity","volume":"10","author":"Sherer, D.M.; Abramowicz, J.S.; Hearn-Stebbins, B.; Woods, JR","year":"1993","unstructured":"Sherer DM, Abramowicz JS, Hearn-Stebbins B, Woods JR. Prenatal sonographic diagnosis of isolated distal amelia of an upper extremity. Am Jf Perinatol 1993;10:64-6.","journal-title":"Am Jf Perinatol"},{"key":"ref_6","first-page":"124","article-title":"Short small intestine associated with malrotation: a newly described congenital cause","volume-title":"of intestinal malabsorption. Gastroenterology 1969; 56","author":"Hamilton, JR, Reilly; BJ, Morecki; R.","unstructured":"Hamilton JR, Reilly BJ, Morecki R. Short small intestine associated with malrotation: a newly described congenital cause of intestinal malabsorption. Gastroenterology 1969; 56:124-36."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1136\/adc.73.2.170","article-title":"Short bowel syndrome","volume":"73","author":"Stringer, M.D.; Puntis, J.W.L.","year":"1995","unstructured":"Stringer MD, Puntis JWL. Short bowel syndrome. Arch Dis Child 1995;73:170-3.","journal-title":"Arch Dis Child"},{"key":"ref_8","article-title":"Diseases of the small intestine in childhood","author":"Walker-Smith, J.A.","year":"1988","unstructured":"Walker-Smith JA. Diseases of the small intestine in childhood. London: Butterworth, 1988."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1159\/000147204","article-title":"A case of dextrocardia with normal situs","volume":"142","author":"McCaskie, A.W.; Thompson, M.M.; Underwood, M.J.; Pallot, D.J.","year":"1991","unstructured":"McCaskie AW, Thompson MM, Underwood MJ, Pallot DJ. A case of dextrocardia with normal situs. Acta Anatomica 1991;142:288-92.","journal-title":"Acta Anatomica"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1136\/jmg.10.3.303","article-title":"Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs","volume":"10","author":"Simpson, J.; Zellweger, H.","year":"1973","unstructured":"Simpson J, Zellweger H. Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs. J Med Genet 1973;10:303-4.","journal-title":"J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.10.879","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:52:36Z","timestamp":1759726356000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.10.879"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,10]]},"references-count":10,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1996,10,1]]},"published-print":{"date-parts":[[1996,10]]}},"alternative-id":["10.1136\/jmg.33.10.879"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.10.879","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,10]]}}}