{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T13:38:15Z","timestamp":1770471495426,"version":"3.49.0"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2001,12,28]],"date-time":"2001-12-28T00:00:00Z","timestamp":1009497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The etiology of mental retardation (MR), often presenting as developmental delay in childhood, is unknown in approximately one\u2010half of cases. G\u2010banding is the standard method for investigating those suspected of having a chromosomal etiology; however, detection of structural abnormalities is limited by the size and pattern of the G\u2010bands involved. Rearrangements involving subtelomeric regions have been shown to cause MR and this has generated interest in investigating the prevalence of these rearrangements using telomere\u2010specific probes. In addition, because cryptic interchromosomal rearrangements may not be small or confined to chromosomal ends, spectral karyotyping (SKY) using chromosome\u2010specific painting probes may be of value. We report here a study using these two FISH\u2010based techniques in 50 children with idiopathic MR or developmental delay and normal GTG\u2010banded karyotypes. Our objective was to assess the prevalence of cryptic rearrangements in this population using subtelomeric FISH and SKY. Three rearrangements were detected by subtelomeric FISH: a derivative 5 from a maternal t(5;21); a recombinant 11 from a paternal pericentric inversion; and a 2q deletion that was also present in the mother. Only the derivative 5 was detected by SKY. SKY did not detect any interstitial interchromosomal rearrangement. The prevalence of clinically significant cryptic rearrangements by subtelomeric FISH and SKY was thus 4% (95% confidence interval 0.5\u201313.7) and 2% (95% CI 0.05\u201310.7), respectively. This study supports the view that G\u2010banding does not detect all clinically significant chromosomal abnormalities and that subtelomeric FISH and SKY can detect some of these abnormalities. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10240","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T22:20:15Z","timestamp":1030314015000},"page":"267-274","source":"Crossref","is-referenced-by-count":48,"title":["Detecting rearrangements in children using subtelomeric FISH and 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