{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T04:33:31Z","timestamp":1697690011520},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,1,10]],"date-time":"2013-01-10T00:00:00Z","timestamp":1357776000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The family observed in this study included affected males and asymptomatic females. The patients shared specific digital abnormalities including postaxial polydactyly, cutaneous syndactyly, and brachydactyly. In addition, the patients exhibited mild\u2010to\u2010moderate intellectual disability and short stature coupled with microbrachycephaly, scoliosis, and cerebellar and renal hypoplasia. No chromosomal alterations or copy number variations were found in the index case. The genetic linkage analysis, which focused on the X chromosome, and the haplotype analysis detected a \u223c15.74\u2009Mb candidate region located at Xp11.4\u2013p11.21 with a LOD score of 4.8. Additionally, half of the mothers showed skewed X\u2010inactivation, while the other mothers exhibited random inactivation patterns. The candidate region includes 28 protein\u2010encoding genes that have not yet been implicated in human disorders. We speculate that the observed phenotype is compatible with a monogenic disorder in which the mutant gene plays a significant role during embryonic development. Based on the patients' clinical features, image studies, pedigree, chromosome location, and X\u2010inactivation studies in the mothers, we propose that this family has a novel, specific syndrome with an X\u2010linked recessive mode of inheritance. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35743","type":"journal-article","created":{"date-parts":[[2013,1,10]],"date-time":"2013-01-10T20:23:55Z","timestamp":1357849435000},"page":"237-243","source":"Crossref","is-referenced-by-count":4,"title":["A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4\u2013p11.21"],"prefix":"10.1002","volume":"161","author":[{"given":"Mar\u00eda C.","family":"Barboza\u2010Cerda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis D.","family":"Campos\u2010Acevedo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Rangel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura E.","family":"Mart\u00ednez\u2010de\u2010Villarreal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel A.","family":"D\u00e9ctor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,1,10]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"1229","article-title":"Methylation of Hpall and Hhal sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_3_1","first-page":"3","article-title":"The Greig cephalopolysyndactyly syndrome","volume":"24","author":"Biesecker LG","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"e_1_2_7_4_1","first-page":"77","volume-title":"The AGT cytogenetics laboratory manual","author":"Brown MG","year":"1997"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30123"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.7.1163"},{"key":"e_1_2_7_7_1","volume-title":"GeneReviews\u2122 (Internet)","author":"Golabi M","year":"1993"},{"key":"e_1_2_7_8_1","first-page":"277","article-title":"Sequential tests for the detection of linkage","volume":"7","author":"Morton NE","year":"1955","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000382"},{"key":"e_1_2_7_10_1","volume-title":"GeneReviews\u2122 (Internet)","author":"Toriello HV","year":"1993"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35743","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35743","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T12:19:54Z","timestamp":1697631594000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35743"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,10]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,2]]}},"alternative-id":["10.1002\/ajmg.a.35743"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35743","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,1,10]]}}}