{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:09Z","timestamp":1761717969080},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5603,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a 15 10\/12\u2010year\u2010old boy (Tanner stage 4, peak growth velocity 7 cm\/year) with a ring X chromosome who presented with extreme short stature (mean \u2010 5.3 SD) as the sole recognizable abnormality. His chromosome constitution was determined to be 46,Y, r(X) (p22.33q28) in 174 of 182 peripheral blood cells and in 35 skin fibroblasts. Of the remaining eight peripheral blood cells, five had a dicentric double\u2010size ring and three had a smaller ring. Other laboratory studies for short stature were noncontributory. We suspect that the ring's specific behavior in mitosis or its effect on expression of the statural determinant on the X chromosome short arm may be responsible for short stature in this patient.<\/jats:p>","DOI":"10.1002\/ajmg.1320350219","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:39:08Z","timestamp":1118547548000},"page":"241-244","source":"Crossref","is-referenced-by-count":6,"title":["A ring X chromosome, 46,Y,r(X)(p22.33q28), as a cause of extreme short stature in a male"],"prefix":"10.1002","volume":"35","author":[{"given":"Tsutomu","family":"Ogata","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobutake","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuyoshi","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00270856"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb01980.x"},{"key":"e_1_2_1_4_1","first-page":"231","article-title":"The cytogenetic and clinical implications of a ring chromosome 2","volume":"24","author":"Cote GB","year":"1981","journal-title":"Ann Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198410183111603"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.3.161"},{"key":"e_1_2_1_7_1","first-page":"3179","article-title":"Coloration parl'acridine orange de chromosomes prealablement traites par le 5\u2010bromodeoxyuridine (BUDR)","volume":"276","author":"Dutrillaux B","year":"1973","journal-title":"C R Acad Sci"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb02077.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-195909000-00030"},{"key":"e_1_2_1_10_1","first-page":"161","article-title":"The behavior of ring chromosome 13","volume":"24","author":"Hoo JJ","year":"1974","journal-title":"Humangenetik"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132030"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00591082"},{"key":"e_1_2_1_13_1","first-page":"9","article-title":"Derivative chromosomal structures from a ring chromosome 4","volume":"28","author":"Niss R","year":"1975","journal-title":"Humangenetik"},{"key":"e_1_2_1_14_1","first-page":"1","article-title":"Memorandum on dermatoglyphic nomenclature","volume":"4","author":"Penrose LS","year":"1968","journal-title":"Birth Defects"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278734"},{"key":"e_1_2_1_16_1","first-page":"240","article-title":"Testicular size: Assessment and clinical importance","volume":"7","author":"Prader A","year":"1966","journal-title":"Triangle"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-57-2-288"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80287-0"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)90287-X"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(73)90561-8"},{"key":"e_1_2_1_21_1","volume-title":"Growth at Adolescence","author":"Tanner JM","year":"1962"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.45.244.755"},{"key":"e_1_2_1_23_1","first-page":"111","article-title":"The physical growth of Japanese children from birth to 18 years of age: Cross\u2010sectional percentile growth curve for height and weight","volume":"42","author":"Tsuzaki S","year":"1987","journal-title":"Helv Paediatr Acta"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320350219","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320350219","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T00:30:12Z","timestamp":1698021012000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320350219"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,2]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1990,2]]}},"alternative-id":["10.1002\/ajmg.1320350219"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320350219","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,2]]}}}