{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T01:27:02Z","timestamp":1762997222686},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3725,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,3,27]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 15\u2010year\u2010old black boy with severe mental retardation, multiple congenital anomalies, and a supernumerary ring chromosome mosaicism. Fluorescence in situ hybridization with a chromosome 1 painting probe (pBS1) identified the ring as derived from chromosome 1. The karyotype was 46,XY\/47,XY,+r(1)(p13q23). A review showed 8 reports of ring chromosome 1. In 5 cases, the patients had a non\u2010supernumerary ring chromosome 1 resulting in partial monosomies of the short and\/or long arm of chromosome 1. In 3 cases, the presence of a supernumerary ring resulted in partial trisomy of different segments of chromosome 1. In one of these cases the supernumerary ring was composed primarily of the centromere and the heterochromatic region of chromosome 1, resulting in normal phenotype. Our patient represents the third report of a supernumerary ring chromosome 1 resulting in abnormal phenotype. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320560221","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:59:25Z","timestamp":1118512765000},"page":"219-223","source":"Crossref","is-referenced-by-count":17,"title":["Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization"],"prefix":"10.1002","volume":"56","author":[{"given":"Harold","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cathy M.","family":"Tuck\u2010Muller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise A. S.","family":"Batista","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wladimir","family":"Wertelecki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03067.x"},{"key":"e_1_2_1_3_1","first-page":"257","article-title":"Ring\u20101 chromosome, microcephalic dwarfism, and acute myeloid leukemia","volume":"126","author":"Bobrow M","year":"1973","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.3.155"},{"key":"e_1_2_1_5_1","first-page":"769","article-title":"Chromosomal origin of small ring marker chro\u2010mosomes in man: Characterization by molecular genetics","volume":"48","author":"Callen DF","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430412"},{"key":"e_1_2_1_7_1","first-page":"97","article-title":"Prenatal diagnosis in the presence of an extra small chromosome in amniotic cell culture","volume":"23","author":"Chen H","year":"1980","journal-title":"Ann Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1965.tb00510.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.5.400"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(64)91045-1"},{"key":"e_1_2_1_11_1","first-page":"234","volume-title":"Human Cytogenetics","author":"Hamerton JL","year":"1971"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb02993.x"},{"key":"e_1_2_1_13_1","first-page":"121","volume-title":"Genetic Disorders and the Fetus. Diagnosis, Prevention and Treatment","author":"Hsu LYF","year":"1986"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1051\/rnd:19900706"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-1759(81)90183-6"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb02054.x"},{"key":"e_1_2_1_17_1","article-title":"Brief Clinical Report: Supernumerary chromosome marker (1) in a developmen\u2010tally delayed child","volume":"57","author":"Lanphear N","year":"1994","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460115"},{"key":"e_1_2_1_19_1","first-page":"148","article-title":"Genetic consequences of ring chromosome 1 in humans","volume":"1","author":"Patel SV","year":"1988","journal-title":"Dysmorphol Clin Genet"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.9.2934"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.23.9138"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970070204"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/96.2.203"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)90287-X"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00942.x"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286654"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(72)90558-7"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(67)80211-7"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00569349"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320560221","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320560221","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T15:04:07Z","timestamp":1698332647000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320560221"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,3,27]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,3,27]]}},"alternative-id":["10.1002\/ajmg.1320560221"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320560221","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,3,27]]}}}