{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:57:28Z","timestamp":1761101848256,"version":"build-2065373602"},"reference-count":11,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,8]]},"abstract":"<jats:p>A very short, microcephalic, and mentally retarded 2 year old girl showed minor anomalies including prominent occiput, delayed closure of the anterior fontanelle, high frontal hairline, prominent ears, upward slanting palpebral fissures, a small nose with bulbous tip, delayed tooth eruption and bone maturation, and short and tapering fingers and toes. She did not have a white forelock. Cytogenetic investigation disclosed a de novo unbalanced translocation between chromosomes 4 and 18 with deletion of 4q12--&gt;q21.1. Molecular investigation showed lack of a paternal allele for the microsatellite markers D4S392 and D4S398. This case shows indirect evidence that the piebald gene maps to proximal 4q12.<\/jats:p>","DOI":"10.1136\/jmg.34.8.692","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"692-695","source":"Crossref","is-referenced-by-count":8,"title":["Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12."],"prefix":"10.1136","volume":"34","author":[{"given":"A","family":"Schinzel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C P","family":"Braegger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Brecevic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Dutly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Binkert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,8,1]]},"reference":[{"key":"ref_1","first-page":"715","article-title":"Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion","volume":"26","author":"Funderburk, S.J.; Crandall, B.F.","year":"1974","unstructured":"Funderburk SJ, Crandall BF. Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion. Am J Hum Genet 1974;26:715-22. Interstitial deletion, del(4) (ql2q21. 1), owing to de novo unbalanced translocation","journal-title":"Am J Hum Genet"},{"key":"ref_2","first-page":"247","article-title":"Piebald trait in a retarded child with interstitial deletion of chromosome 4","volume":"13","author":"Lacassie, Y.; Thurmon, T.F.; Tracy, M.H.","year":"1977","unstructured":"Lacassie Y, Thurmon TF, Tracy MH, et al. Piebald trait in a retarded child with interstitial deletion of chromosome 4. Birth Defects 1977;13:247.","journal-title":"Birth Defects"},{"key":"ref_3","first-page":"117","article-title":"The child with congenital anomalies and interstitial deletion of the long arm of chromosome 4","author":"Lech, H.; Kubalska, J.; Wisniewski, L.","year":"1982","unstructured":"Lech H, Kubalska J, Wisniewski L. The child with congenital anomalies and interstitial deletion of the long arm of chromosome 4. Kin Padiatr 1982;194:117-19.","journal-title":"Kin Padiatr"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1007\/BF00401233","article-title":"Tentative assignment of piebald trait gene to chromosome band 4q12","volume":"73","author":"Hoo, J.J.; Haslam, R.H.A.; van Orman, C.","year":"1986","unstructured":"Hoo JJ, Haslam RHA, van Orman C.Tentative assignment of piebald trait gene to chromosome band 4q12. Hum Genet 1986;73:230-1.","journal-title":"Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1002\/ajmg.1320310310","article-title":"A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4","volume":"31","author":"Beall, M.H.; Falk, R.E.; Ying, K.L.","year":"1988","unstructured":"Beall MH, Falk RE, Ying KL. A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4. AmJ Med Genet 1988;31:553-7.","journal-title":"AmJ Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1002\/ajmg.1320320419","article-title":"Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompability within the Gc-system: probable reduced gene dosage effect and partial piebald trait","volume":"32","author":"Yamamoto, Y.; Nishimoto, H.; Ikemoto, S.","year":"1989","unstructured":"Yamamoto Y, Nishimoto H, Ikemoto S. Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompability within the Gc-system: probable reduced gene dosage effect and partial piebald trait. Am Jf Med Genet 1989;32:520-3.","journal-title":"Am Jf Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1136\/jmg.27.1.64","article-title":"Interstitial deletion of chromosome 4, del(4)(ql2q21.1), in a child with multiple congenital abnormalities","volume":"27","author":"Curtis, M.A.; Quarrell, O.W.J.; Cobon, A.M.","year":"1990","unstructured":"Curtis MA, Quarrell OWJ, Cobon AM, et al. Interstitial deletion of chromosome 4, del(4)(ql2q21.1), in a child with multiple congenital abnormalities. Med Genet 1990; 27:64-5.","journal-title":"Med Genet"},{"key":"ref_8","first-page":"235","article-title":"Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4","volume":"10","author":"Sijmons, R.H.; Kristoffersson, U.; Tuerlings, J.H.A.M.; Ljung, B.; Dijkhuis-Stoffelsma, R.; Breed, A.P.S.M.","year":"1993","unstructured":"Sijmons RH, Kristoffersson U, Tuerlings JHAM, Ljung B, Dijkhuis-Stoffelsma R, Breed APSM. Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4. Pediatr Dermatol 1993;10:235-9."},{"key":"ref_9","article-title":"A catalogue of unbalanced chromosome aberrations in man","author":"Schinzel, A.","year":"1984","unstructured":"Schinzel A. A catalogue of unbalanced chromosome aberrations in man. Berlin: Walter de Gruyter, 1984."},{"key":"ref_10","article-title":"Human cytogenetics database. Oxford Medical Databases Series","author":"Schinzel, A.","year":"1994","unstructured":"Schinzel A. Human cytogenetics database. Oxford Medical Databases Series. Oxford: Oxford University Press, Electronic Publishing, 1994."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/BF00287046","article-title":"Partial monosomy of long arm of chromosome 4 due to interstitial deletion","volume":"53","author":"McDermott, A.; Cain, R.; Howell, R.","year":"1980","unstructured":"McDermott A, Cain R, Howell R. Partial monosomy of long arm of chromosome 4 due to interstitial deletion. Hum Genet 1980;53:305-7.","journal-title":"Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.34.8.692","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:12:22Z","timestamp":1760775142000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.34.8.692"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,8]]},"references-count":11,"journal-issue":{"issue":"8","published-online":{"date-parts":[[1997,8,1]]},"published-print":{"date-parts":[[1997,8]]}},"alternative-id":["10.1136\/jmg.34.8.692"],"URL":"https:\/\/doi.org\/10.1136\/jmg.34.8.692","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1997,8]]}}}