{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T22:38:37Z","timestamp":1773268717290,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,6,8]],"date-time":"2004-06-08T00:00:00Z","timestamp":1086652800000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2004,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Fluorescent subtelomeric probes for the 41 different subtelomeric regions (the p arms of the acrocentric chromosomes were excluded) have been developed over the last 10 years. These probes can detect deletions, duplications, and translocations in the gene\u2010rich subtelomeric regions of human chromosomes, regions where crossing over frequently occurs and where a high number of abnormalities have been found. Recently, commercially produced probes have become available, which has led to the detection of subtelomeric abnormalities in 7.4% of patients with moderate to severe mental retardation (Knight et al., <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib8\">1999<\/jats:ext-link>).<\/jats:p><\/jats:sec><jats:sec><jats:title>CASES<\/jats:title><jats:p>We evaluated 43 dysmorphic children with developmental delay and\/or mental retardation of unknown etiology and\/or autism who were previously assessed for chromosome abnormalities, metabolic disorders, or recognizable dysmorphic syndromes, all of which were ruled out. Of the 43 children tested, 6 (14%) were found to have subtelomeric aberrations.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS<\/jats:title><jats:p>We recommend that patients with dysmorphic features and mental retardation of unknown etiology who also have a normal standard chromosome analysis should have subtelomeric FISH testing performed earlier in their clinical workup. Birth Defects Research (Part A), 2004. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.20036","type":"journal-article","created":{"date-parts":[[2004,6,8]],"date-time":"2004-06-08T17:00:44Z","timestamp":1086714044000},"page":"408-415","source":"Crossref","is-referenced-by-count":11,"title":["Clinical and cytogenetic manifestations of subtelomeric aberrations: Report of six cases"],"prefix":"10.1002","volume":"70","author":[{"given":"Esperanza","family":"Font\u2010Montgomery","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David D.","family":"Weaver","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celanie","family":"Christensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia C.","family":"Thurston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,6,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9297(07)62969-3"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.322802"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.3.145"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-132"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-5223.1974.tb01177.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(05)80125-9"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000484724"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(99)03070-6"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.6.401"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/302998"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000134129"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.1.58"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100559"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1990.tb08137.x"},{"key":"e_1_2_7_16_1","first-page":"vii","volume-title":"Human malformations and related anomalies","author":"Stevenson RE","year":"1993"},{"key":"e_1_2_7_17_1","first-page":"19","article-title":"Mental retardation: overview and historical perspective","volume":"15","author":"Stevenson RE","year":"1996","journal-title":"Proc Greenwood Genet Center"},{"key":"e_1_2_7_18_1","first-page":"2","volume-title":"ToTelVysion Multicolor FISH Probe Panel. 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