{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:17:28Z","timestamp":1792153048445,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2001,8,20]],"date-time":"2001-08-20T00:00:00Z","timestamp":998265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2001,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The molecular cause of the \u03b1\u2010thalassemia\/mental retardation syndrome (ATR\u2010X) resides in mutations affecting the XNP\/ATR\u2010X gene. Recently molecular defects in the gene have been found in singular cases of a discrete number of X\u2010linked mental retardation (XLMR). ATR\u2010X\u2010affected males are characterised by severe mental retardation, distinct facial dysmorphisms and genital abnormalities, besides a wide spectrum of pathological features and an extremely limited biological fitness. Given that molecular investigation of XNP\/ATR\u2010X mutations is made onerous by the length of the gene transcript, we carried out a prenatal diagnosis in a fetus at risk for ATR\u2010X syndrome by initially determining the XNP\/ATR\u2010X gene haplotype before considering gene sequencing. Disease\u2010associated haplotype analysis was performed selecting five genic (CA)<jats:sub>n<\/jats:sub> repeats that showed high heterozygosity (Het&gt;0.7) in the general population. The fetus segregated an identical allelic pattern to that of the affected child of the family under investigation who shows features suggestive of the ATR\u2010X syndrome. Subsequent mutational analysis of the gene revealed a novel IVS3+1G&gt;T splicing mutation confirming the diagnosis. Copyright \u00a9 2001 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.142","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T21:23:24Z","timestamp":1030310604000},"page":"747-751","source":"Crossref","is-referenced-by-count":16,"title":["Prenatal diagnosis of ATR\u2010X syndrome in a fetus with a new G&gt;T splicing mutation in the XNP\/ATR\u2010X gene"],"prefix":"10.1002","volume":"21","author":[{"given":"Marco","family":"Fichera","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Silengo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Spalletta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariangela","family":"Lo Giudice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrado","family":"Romano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Ragusa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,8,20]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990730)85:3<249::AID-AJMG12>3.0.CO;2-U"},{"key":"e_1_2_1_3_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\u2010chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200387"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.1.e1"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90099-2"},{"key":"e_1_2_1_7_1","first-page":"1136","article-title":"X\u2010Linked \u03b1\u2010thalassemia\/mental retardation (ATR\u2010X) syndrome: localization to Xq12\u2010q21.31 by X\u2010inactivation and linkage analysis","volume":"51","author":"Gibbons RJ","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550309"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90287-2"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-146"},{"key":"e_1_2_1_11_1","unstructured":"Human Gene Mutation Database (HGMD) (for the mutations reported in the XNP\/ATR\u2010X gene).http:\/\/www.uwcm.ac.uk\/uwcm\/mg\/search\/136052.html.[February 2001]"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/302499"},{"key":"e_1_2_1_13_1","unstructured":"Online Mendelian Inheritance in Man (OMIM).http:\/\/www.ncbi.nlm.nih.gov\/Omim. 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