{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:18:49Z","timestamp":1791317929557,"version":"4.3.1"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,7,17]],"date-time":"2002-07-17T00:00:00Z","timestamp":1026864000000},"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":[[2002,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two patients with partial deletions of the long arm of chromosome 13, del(13)(13q21\u2010q34) and del(13)(13q22\u2010q33), respectively, multiple congenital anomalies including holoprosencephaly (HPE) and the Dandy\u2010Walker malformation (DWM) are described. The occurrence of HPE and the DWM in both of these patients suggests that, in addition to <jats:italic>ZIC2<\/jats:italic>, which is important for normal development of the forebrain, there is at least one other dosage\u2010sensitive gene in 13q22\u2010q33 that plays an important role in brain development. The DWM is anatomically and developmentally distinct from HPE. The presence of a DWM in each of these two patients with partial deletions of the long arm of chromosome 13 suggests that haploinsufficiency at a locus in 13q22\u2010q33 may cause this anomaly. These findings suggest that microdeletions in 13q22\u2010q33 may be found in a proportion of patients with an apparently isolated DWM. Therefore, careful high\u2010resolution cytogenetic analysis (550 band level or greater) of 13q22\u2010q33 may be considered in these patients. Furthermore, future molecular studies of this region may reveal candidate gene loci for the DWM. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10659","type":"journal-article","created":{"date-parts":[[2002,10,11]],"date-time":"2002-10-11T22:29:21Z","timestamp":1034375361000},"page":"384-389","source":"Crossref","is-referenced-by-count":31,"title":["Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy\u2010Walker malformation"],"prefix":"10.1002","volume":"112","author":[{"suffix":", Jr.","given":"W. 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