{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T23:50:50Z","timestamp":1776297050332,"version":"3.50.1"},"reference-count":10,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2011]]},"abstract":"<jats:p>We report a 4-year-old girl of Mexican origins with a clinical diagnosis of Dubowitz syndrome who carries a de novo terminal deletion at the 14q32.33 locus identified by array comparative genomic hybridization (aCGH). Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice. This syndrome is thought to be autosomal recessive; however, the etiology has not been determined. This is the first report of this deletion in association with this phenotype; it is possible that this deletion may be causal for a Dubowitz phenocopy.<\/jats:p>","DOI":"10.1155\/2011\/306072","type":"journal-article","created":{"date-parts":[[2011,9,28]],"date-time":"2011-09-28T21:00:29Z","timestamp":1317243629000},"page":"1-6","source":"Crossref","is-referenced-by-count":7,"title":["Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome"],"prefix":"10.1155","volume":"2011","author":[{"given":"Diana C.","family":"Darcy","sequence":"first","affiliation":[{"name":"South Bay Regional Genetics Center, Santa Clara Valley Medical Center, Suite 310, 751 S. Bascom Avenue, San Jose, CA 95128, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Scott","family":"Rosenthal","sequence":"additional","affiliation":[{"name":"South Bay Regional Genetics Center, Santa Clara Valley Medical Center, Suite 310, 751 S. Bascom Avenue, San Jose, CA 95128, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Wallerstein","sequence":"additional","affiliation":[{"name":"South Bay Regional Genetics Center, Santa Clara Valley Medical Center, Suite 310, 751 S. 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