{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T12:15:50Z","timestamp":1763640950690},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4385,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Xp21 microdeletion syndrome is associated with variable size Xp21 deletions that usually include the glycerol kinase locus. The clinical phenotypes we studied in this chromosome region include: Xpter \u2013 \u00c5land Island eye disease (AIED) \u2010adrenal hypoplasia (AH) \u2010glycerol kinase (GKD) \u2010Duchenne muscular dystrophy (DMD) \u2010retinitis pigmentosa (RP) \u2010ornithine transcarbamylase (OTC) \u2010centromere. In a compilation of 18 individuals in 14 families with the AH, GKD, and DMD loci deleted, 17 were male and all were developmentally delayed. In contrast, we report mentally retarded female carriers in two Xp21 deletion syndrome families with DMD, GKD, and AH in affected males. In the first family with normal karyotypes, a submicroscopic deletion was associated with DMD in the retarded male and with retardation in carrier females. In the second family an X chromosome with a cytogenetically deleted Xp21 distal to the OTC and RP genes segregated in the affected male and retarded female carriers. DNA analysis at the DMD locus verified the cytogenetic findings. This report of mental retardation in otherwise asymptomatic female carriers of Xp21 deletion classifies one form of mental retardation in females. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460404","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:28:22Z","timestamp":1118507302000},"page":"363-368","source":"Crossref","is-referenced-by-count":21,"title":["Mental retardation locus in Xp21 chromosome microdeletion"],"prefix":"10.1002","volume":"46","author":[{"given":"Melissa H.","family":"Fries","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roger V.","family":"Lebo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven A.","family":"Schonberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahin","family":"Golabi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William K.","family":"Seltzer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen E.","family":"Gitelman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitchell S.","family":"Golbus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80980-5"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.23.11141"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291665"},{"key":"e_1_2_1_5_1","first-page":"126","article-title":"Myopathy in complex glycerol kinase deficiency patients is due to 3\u03b2 deletions of the dystrophin gene","volume":"43","author":"Darras BT","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132078"},{"key":"e_1_2_1_7_1","first-page":"212","article-title":"Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions","volume":"40","author":"Francke U","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410070509"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00206749"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(77)91437-1"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113890"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360106"},{"key":"e_1_2_1_13_1","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1111\/j.1399-0004.1983.tb00078.x","article-title":"Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation in association with glycerol kinase deficiency in male sibs","volume":"245","author":"Renier Wo","year":"1983","journal-title":"Clin Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880120409"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286703"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00244.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320460404","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320460404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T05:27:40Z","timestamp":1698298060000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320460404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,6]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1993,6]]}},"alternative-id":["10.1002\/ajmg.1320460404"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320460404","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,6]]}}}