{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T06:24:14Z","timestamp":1790144654062,"version":"4.0.1"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,11,8]],"date-time":"2004-11-08T00:00:00Z","timestamp":1099872000000},"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":[[2004,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe two unrelated patients with cytogenetically visible deletions of 21q22.2\u2010q22.3 and mild phenotypes. Both patients presented minor dysmorphic features including thin marfanoid build, facial asymmetry, downward\u2010slanting palpebral fissures, depressed nasal bridge, small nose with bulbous tip, and mild mental retardation (MR). FISH and molecular studies indicated common deleted areas but different breakpoints. In patient 1, the breakpoint was fine mapped to a 5.2 kb interval between exon 5 and exon 8 of the <jats:italic>ETS2<\/jats:italic> gene. The subtelomeric FISH probe was absent on one homologue 21 indicating a terminal deletion spanning \u223c7.9 Mb in size. In patient 2, the proximal breakpoint was determined to be 300\u2013700 kb distal to <jats:italic>ETS2<\/jats:italic>, and the distal breakpoint 2.5\u20130.3 Mb from the 21q telomere, indicating an interstitial deletion sized \u223c4.7\u20137.3 Mb. The 21q\u2010 syndrome is rare and typically associated with a severe phenotype, but different outcomes depending on the size and location of the deleted area have been reported. Our data show that monosomy 21q of the area distal to the <jats:italic>ETS2<\/jats:italic> gene, representing the terminal 7.9 Mb of 21q, may result in mild phenotypes comprising facial anomalies, thin marfanoid build, and mild MR, with or without signs of holoprosencephaly. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30361","type":"journal-article","created":{"date-parts":[[2004,11,8]],"date-time":"2004-11-08T22:38:22Z","timestamp":1099953502000},"page":"265-372","source":"Crossref","is-referenced-by-count":28,"title":["Mild phenotype in two unrelated patients with a partial deletion of 21q22.2\u2010q22.3 defined by FISH and molecular 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