{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T03:16:17Z","timestamp":1790133377541,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2006,2,6]],"date-time":"2006-02-06T00:00:00Z","timestamp":1139184000000},"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":[[2006,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a familial interstitial deletion of 7.7\u2010Mb involving Xp22.2\u201022.3. The deletion was transmitted from an asymptomatic mother to her two children with severe developmental delay, no speech development and autistic behavior. Assessment of the deletion boundaries by FISH and PCR analyses indicated that the deletions encompasses 27 genes. Several of these genes are associated with known disorders, like <jats:italic>KAL1<\/jats:italic> (Kallmann syndrome), steroid sulfatase (<jats:italic>STS<\/jats:italic>) (X\u2010linked ichtyosis), and arylsulfatase E (<jats:italic>ARSE<\/jats:italic>) (chondrodysplasia punctata). The deletion also includes all four VCX genes (<jats:italic>VCX\u2010A, VCX\u2010B1, VCX\u2010B,<\/jats:italic> and <jats:italic>VCX\u2010C<\/jats:italic>) and the neuroligin 4 (<jats:italic>NLGN4<\/jats:italic>) gene. <jats:italic>VCX\u2010A<\/jats:italic> deficiency has been shown previously to be associated with mental retardation and <jats:italic>NLGN4<\/jats:italic> mutations lead to mental retardation in conjunction with autism. Functional deficiency of both MRX genes, <jats:italic>VCX\u2010A<\/jats:italic> and <jats:italic>NLGN4<\/jats:italic>, are most likely associated with the impaired cognitive development of the patients described here. The phenotype associated with the Xp deletion was highly variable in female carriers and might be attributed to unfavorable X inactivation. However, all the 27 genes included in the deleted interval escape X inactivation and are expressed at variable levels from the normal X chromosome. Thus, the overall X inactivation pattern and inter\u2010individual expression variability of the genes in distal Xp might be determinants of the phenotype associated with the deletion. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31145","type":"journal-article","created":{"date-parts":[[2006,2,9]],"date-time":"2006-02-09T22:28:09Z","timestamp":1139524089000},"page":"604-610","source":"Crossref","is-referenced-by-count":65,"title":["Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2\u201022.3 with a highly variable phenotype in female carriers"],"prefix":"10.1002","volume":"140A","author":[{"given":"Sylwia","family":"Chocholska","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Rossier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gotthold","family":"Barbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hildegard","family":"Kehrer\u2010Sawatzki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,2,14]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI 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_5_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.4.221"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.24.10001"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03479"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0013-9580.2003.61702.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.10.1821"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/303047"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(95)80054-P"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1136"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/382137"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00417.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0793-272"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000382"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.3.1100"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.7.466"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi186"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000911)94:2<163::AID-AJMG9>3.0.CO;2-U"}],"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.31145","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31145","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T05:57:29Z","timestamp":1697608649000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31145"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2,14]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2006,3,15]]}},"alternative-id":["10.1002\/ajmg.a.31145"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31145","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2,14]]}}}