{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:36:00Z","timestamp":1760747760275,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,4]]},"abstract":"<jats:p>An unbalanced Y autosome translocation t(5;Y) and an apparently balanced translocation t(2;13) are identified with the Q and R banding in a 7-year-old boy with severe encephalopathy and a multiple malformation syndrome. At birth, the clinical diagnosis of 'cri du chat' syndrome based on the characteristic crying was not confirmed after karyotyping, using conventional staining techniques.<\/jats:p>","DOI":"10.1136\/jmg.15.2.154","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"154-157","source":"Crossref","is-referenced-by-count":12,"title":["Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome."],"prefix":"10.1136","volume":"15","author":[{"given":"J F","family":"Mattei","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M G","family":"Mattei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Coignet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Giraud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1978,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1111\/j.1399-0004.1974.tb01716.x","article-title":"'Cri du chat' syndrome with maternal insertional translocation","volume":"5","author":"Berger, R.; Touati, G.; Derre, J.; Ortiz, M.A.; Marinetti, J.","year":"1974","unstructured":"Berger, R., Touati, G., Derre, J., Ortiz, M. A., and Marinetti, J. (1974). 'Cri du chat' syndrome with maternal insertional translocation. Clinical Genetics, 5, 428-432.","journal-title":"Clinical Genetics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1159\/000130126","article-title":"A pericentric inversion, 5p-q+, and additional complex rearrangements in a case of 'cri du chat'","volume":"10","author":"Catti, A.; Schmid, W.","year":"1971","unstructured":"Catti, A., and Schmid, W. (1971). A pericentric inversion, 5p-q+, and additional complex rearrangements in a case of 'cri du chat' syndrome. Cytogenetics, 10, 50-60.","journal-title":"syndrome. Cytogenetics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1136\/jmg.8.4.504","article-title":"Autosomal translocation in a mentally retarded male child with 46, XY, t(2q13q+) complement: case report and review","volume":"8","author":"Genest, P.; Lachance, R.; Poty, J.; Jacob, D.","year":"1971","unstructured":"Genest, P., Lachance, R., Poty, J., and Jacob, D. (1971). Autosomal translocation in a mentally retarded male child with 46,XY,t(2q13q+) complement: case report and review. Journal of Medical Genetics, 8, 504-507.","journal-title":"Journal of Medical Genetics"},{"key":"ref_4","first-page":"203","article-title":"Trisomie 13 partielle par translocation t(2; 13) maternelle","volume":"20","author":"Giraud, F.; Mattei, J.F.; Mattei, M.G.","year":"1977","unstructured":"Giraud, F., Mattei, J. F., and Mattei, M. G. (1977). Trisomie 13 partielle par translocation t(2;13) maternelle. Annales de Genetique, 20, 203-208.","journal-title":"Annales de Genetique"},{"key":"ref_5","first-page":"9","article-title":"Y\/autosomal translocations","author":"Nielsen, J.; Rasmussen, K.","year":"1976","unstructured":"Nielsen, J., and Rasmussen, K. (1976). Y\/autosomal translocations. Clinical Genetics, 9,609-617.","journal-title":"Clinical Genetics"},{"key":"ref_6","first-page":"127","article-title":"Maladie du cri du chat associee a un remaniement chromosomique complexe chez un jumeau dizygote","volume":"16","author":"Taillemite, J.L.; Baheux-Morlier, G.; Cathelineau, L.; Roux, C.","year":"1973","unstructured":"Taillemite, J. L., Baheux-Morlier, G., Cathelineau, L., and Roux, C. (1973). Maladie du cri du chat associee a un remaniement chromosomique complexe chez un jumeau dizygote. Annales de Ginitique, 16, 127-130.","journal-title":"Annales de Ginitique"},{"key":"ref_7","article-title":"A recognisable syndrome has emerged in association with a deficiency of part of the long arm of chromosome 18 which has been referred to by some as the 'carp-mouth' syndrome (Lejeune et aL","volume-title":"Cytogenetically, the deletion usually involves one-quarter to one-third of the terminal portion of the long arm. Most reported cases have been spontaneous. A few, however, have occurred in families where a balanced translocation involving chromosome 18 is segregating. At least 6 cases have been reported with mosaicism (46, XX\/46, XX,18q-). In addition to the more common 18qsyndrome, several cases have been reported with deletions of the short arm of 18 and a few with ring 18 chromosomes","year":"1966","unstructured":"A recognisable syndrome has emerged in association with a deficiency of part of the long arm of chromosome 18 which has been referred to by some as the 'carp-mouth' syndrome (Lejeune et aL, 1966). Cytogenetically, the deletion usually involves one-quarter to one-third of the terminal portion of the long arm. Most reported cases have been spontaneous. A few, however, have occurred in families where a balanced translocation involving chromosome 18 is segregating. At least 6 cases have been reported with mosaicism (46,XX\/46,XX,18q-). In addition to the more common 18qsyndrome, several cases have been reported with deletions of the short arm of 18 and a few with ring 18 chromosomes."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.2.154","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:06:13Z","timestamp":1760731573000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.2.154"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,4]]},"references-count":7,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1978,4,1]]},"published-print":{"date-parts":[[1978,4]]}},"alternative-id":["10.1136\/jmg.15.2.154"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.2.154","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1978,4]]}}}