{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:13:13Z","timestamp":1760728393324,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,2]]},"abstract":"<jats:p>A 2-year-old male child with mosaicism for monosomy of chromosome 22 is described. He had moderate psychomotor retardation, generalised hypotonia, large ears, epicanthus, synophrys, and cutaneous syndactyly between all the fingers.<\/jats:p>","DOI":"10.1136\/jmg.18.1.71","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"71-73","source":"Crossref","is-referenced-by-count":7,"title":["Monosomy 22 with mosaicism"],"prefix":"10.1136","volume":"18","author":[{"given":"M S","family":"Moghe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z M","family":"Patel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J J","family":"Peter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L M","family":"Ambani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1056\/NEJM196710122771502","article-title":"Autosomal monosomy in man","volume":"277","author":"Al-Aish, M.S.; De La Cruz, F.; Goldsmith, L.A.; Volpe, J.; Mella, G.; Robinson, J.C.","year":"1967","unstructured":"Al-Aish MS, De La Cruz F, Goldsmith LA, Volpe J, Mella G, Robinson JC. Autosomal monosomy in man. N Engl J Med 1967;277:777-84.","journal-title":"N Engl J Med"},{"issue":"44","key":"ref_2","first-page":"113","article-title":"Monosomy for G-autosome","volume":"1969","author":"Dhadial, R.K.","unstructured":"Dhadial RK. Monosomy for G-autosome. Arc\/h Dis Child 1969;44:113.","journal-title":"Arc\/h Dis Child"},{"key":"ref_3","first-page":"77","article-title":"Identification by fluorescent microscopy of abnormal chromosomes, associated with G deletion syndrome","volume":"25","author":"Warren, R.J.; Rimoin, D.L.; Summitt, R.L.","year":"1973","unstructured":"Warren RJ, Rimoin DL, Summitt RL. Identification by fluorescent microscopy of abnormal chromosomes, associated with G deletion syndrome. Am J Hum Genet 1973;25:77-81.","journal-title":"Am J Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1016\/S0022-3476(73)80382-8","article-title":"Monosomy of chromosome No 22. A case report","volume":"830","author":"DeCicco, F.; Steele, M.W.; Pan, S.; Parck, S.C.","year":"1973","unstructured":"DeCicco F, Steele MW, Pan S, Parck SC. Monosomy of chromosome No 22. A case report. J Pediatr 1973;830: 836-8.","journal-title":"J Pediatr"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1111\/j.1399-0004.1977.tb00933.x","article-title":"Phenotypic correlations in patients with ring chromosome 22","volume":"12","year":"1977","unstructured":"Hunter AGW, Ray M, Wang HS, Thompson DR. Phenotypic correlations in patients with ring chromosome 22. Clin Gentet 1977;12:239-49.","journal-title":"Clin Gentet"},{"key":"ref_6","unstructured":"In 1964, Pfeiffer' described a family in which eight subjects in three generations had a syndrome consisting of craniosynostosis, broad thumbs and big toes, and partial soft tissue syndactyly of the hands and feet. Vertical transmission of the trait, and the fact that males and females were equally affected, supported an autosomal dominant mode of inheritance. Because of the close phenotypic similarity to the Apert syndrome, Pfeiffer reported this family as having a mild form of that syndrome. However, in pedigree studies, no transition from one type to the other was observed. The syndromes are recognised by most investigators as separate entities,2 although recent reports3 4 have cast doubt on this conclusion.","article-title":"In 1964, Pfeiffer' described a family in which eight subjects in three generations had a syndrome consisting of craniosynostosis, broad thumbs and big toes, and partial soft tissue syndactyly of the hands and feet. Vertical transmission of the trait, and the fact that males and females were equally affected, supported an autosomal dominant mode of inheritance. Because of the close phenotypic similarity to the Apert syndrome, Pfeiffer reported this family as having a mild form of that syndrome. However, in pedigree studies, no transition from one type to the other was observed. The syndromes are recognised by most investigators as separate entities,2 although recent reports3 4 have cast doubt on this conclusion"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.18.1.71","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:39:21Z","timestamp":1760726361000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.18.1.71"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,2]]},"references-count":6,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1981,2,1]]},"published-print":{"date-parts":[[1981,2]]}},"alternative-id":["10.1136\/jmg.18.1.71"],"URL":"https:\/\/doi.org\/10.1136\/jmg.18.1.71","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1981,2]]}}}