{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:49:18Z","timestamp":1760723358703,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1980,2]]},"abstract":"<jats:p>We have examined a boy with a peculiar facial appearance and mental retardation. Cytogenetic studies showed 47,XY, monosomy 22, two marker chromosomes, M1 and M2. The karotype is interpreted as functionally partial trisomy 22. Chromosome analyses of both parents and three sibs were normal.<\/jats:p>","DOI":"10.1136\/jmg.17.1.66","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"66-68","source":"Crossref","is-referenced-by-count":3,"title":["Complex chromosomal rearrangement leading to partial trisomy 22."],"prefix":"10.1136","volume":"17","author":[{"given":"I L","family":"Hansteen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Schirmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Hestetun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Br\u00f8gger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1980,2,1]]},"reference":[{"key":"ref_1","first-page":"241","article-title":"Trisomy 22: a clinically identifiable syndrome","volume":"XI:","author":"Alfi, O.S.; Sanger, R.G.; Donnell, G.M.","year":"1975","unstructured":"Alfi OS, Sanger RG, Donnell GM. Trisomy 22: a clinically identifiable syndrome. Birth Defects 1975;XI:241-5.","journal-title":"Birth Defects"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1001\/archpedi.1977.02120210071015","article-title":"Cat eye syndrome","volume":"131","author":"Bofinger, M.K.; Soukup, S.W.","year":"1977","unstructured":"Bofinger MK, Soukup SW. Cat eye syndrome. Am J Dis Child 1977;131:893-7.","journal-title":"Am J Dis Child"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1136\/jmg.13.6.501","article-title":"Abnormal chromosome 22 and recurrence of trisomy-22 syndrome","volume":"13","author":"Emanuel, B.S.; Zackai, E.H.; Aronson, M.M.; Mellman, W.J.; Moorhead, P.S.","year":"1976","unstructured":"Emanuel BS, Zackai EH, Aronson MM, Mellman WJ, Moorhead PS. Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. J Med Genet 1976;13:501-6.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1111\/j.1399-0004.1977.tb00895.x","article-title":"Partial trisomy 22: a recognizable syndrome","volume":"12","author":"Garlinger, P.; McGeary, S.A.; Magenis, E.","year":"1977","unstructured":"Garlinger P, McGeary SA, Magenis E. Partial trisomy 22: a recognizable syndrome. Clin Genet 1977;12:9-16.","journal-title":"Clin Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1177\/000992287601500706","article-title":"The problem of trisomy 22","volume":"15","author":"Zellweger, H.; Ionasescu, V.; Simpson, J.; Burmeister, L.","year":"1976","unstructured":"Zellweger H, Ionasescu V, Simpson J, Burmeister L. The problem of trisomy 22. Clin Pediatr 1976;15:601-17.","journal-title":"Clin Pediatr"},{"key":"ref_6","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":"83","author":"DeCicco, F.; Steele, M.W.; Pan, S.; Park, S.C.","year":"1973","unstructured":"DeCicco F, Steele MW, Pan S, Park SC. Monosomy of chromosome no 22: a case report. J Pediatr 1973;83: 836-8.","journal-title":"J Pediatr"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1111\/j.1399-0004.1977.tb00942.x","article-title":"C-bands in seven cases of accessory small chromosomes","volume":"12","author":"Soudek, D.; Sroka, H.","year":"1977","unstructured":"Soudek D, Sroka H. C-bands in seven cases of accessory small chromosomes. Clin Genet 1977;12:285-9.","journal-title":"Clin Genet"},{"key":"ref_8","unstructured":"SUmmARY A review of published clinical reports shows that anorexia nervosa has been found in association with several genetic anomalies, principally gonosomal aneuploidy. An additional, and unique, association is described here: a case of anorexia nervosa in a patient with the yellow mutant form of oculocutaneous albinism and no other apparent chromosomal abnormalities. While the concurrence of these two disorders in a single person is apparently a chance phenomenon, our review of experimental publications shows that feeding disturbances also occur in yellow mutant mice. Such complementary findings suggest the need for continuing investigation of the genetic foundations of eating behaviour.","article-title":"SUmmARY A review of published clinical reports shows that anorexia nervosa has been found in association with several genetic anomalies, principally gonosomal aneuploidy. An additional, and unique, association is described here: a case of anorexia nervosa in a patient with the yellow mutant form of oculocutaneous albinism and no other apparent chromosomal abnormalities. While the concurrence of these two disorders in a single person is apparently a chance phenomenon, our review of experimental publications shows that feeding disturbances also occur in yellow mutant mice. Such complementary findings suggest the need for continuing investigation of the genetic foundations of eating behaviour"},{"key":"ref_9","unstructured":"Anorexia nervosa is a feeding disorder occurring primarily in adolescent women and is apparently increasing in incidence.' Primary symptoms include severe self-induced malnutrition with weight loss exceeding 25 %, distorted bodily perceptions, or implacable attitudes towards food, weight, and eating. These symptoms occur in the absence of other physical or psychiatric illness that would account for this.2 Frequent secondary manifestations include amenorrhoea, bradycardia, lanugo hair, hyperactivity, bulimia, and vomiting. Current theories regarding the aetiology of anorexia nervosa postulate intrafamilial, psychodynamic, genetic, or hypothalamic factors. Although no genetic basis for the disease has been clearly established, at least ten cases in association with gonosomal aneuploidy (Turner's syndrome) have been reported since","article-title":"Anorexia nervosa is a feeding disorder occurring primarily in adolescent women and is apparently increasing in incidence.' Primary symptoms include severe self-induced malnutrition with weight loss exceeding 25 %, distorted bodily perceptions, or implacable attitudes towards food, weight, and eating. These symptoms occur in the absence of other physical or psychiatric illness that would account for this.2 Frequent secondary manifestations include amenorrhoea, bradycardia, lanugo hair, hyperactivity, bulimia, and vomiting. Current theories regarding the aetiology of anorexia nervosa postulate intrafamilial, psychodynamic, genetic, or hypothalamic factors. Although no genetic basis for the disease has been clearly established, at least ten cases in association with gonosomal aneuploidy (Turner's syndrome) have been reported since"},{"key":"ref_10","unstructured":"Y3 Halmi and associates have argued persuasively that these cases reflect a much greater than chance concurrent incidence of XO gonosome abnormality and anorexia nervosa.5 6 On the other hand, Walinder and Mellbin14 found normal karyotypes in all 30 anorexic patients they observed.","article-title":"Y3 Halmi and associates have argued persuasively that these cases reflect a much greater than chance concurrent incidence of XO gonosome abnormality and anorexia nervosa.5 6 On the other hand, Walinder and Mellbin14 found normal karyotypes in all 30 anorexic patients they observed"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.17.1.66","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:39:49Z","timestamp":1760722789000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.17.1.66"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,2]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1980,2,1]]},"published-print":{"date-parts":[[1980,2]]}},"alternative-id":["10.1136\/jmg.17.1.66"],"URL":"https:\/\/doi.org\/10.1136\/jmg.17.1.66","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1980,2]]}}}