{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:18:51Z","timestamp":1791317931703,"version":"4.3.1"},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2009,4,10]],"date-time":"2009-04-10T00:00:00Z","timestamp":1239321600000},"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":[[2009,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Partial deletions of the long arm of chromosome 13 lead to variable phenotypes dependant on the size and position of the deleted region. In order to update the phenotypic map of chromosome 13q21.1\u2010qter deletions, we applied 244k Agilent oligonucleotide\u2010based array\u2010CGH to determine the exact breakpoints in 14 patients with partial deletions of this region. Subsequently, we linked the genotype to the patient's phenotype. Using this approach, we were able to refine the smallest deletion region linked to short stature (13q31.3: 89.5\u201391.6 Mb), microcephaly (13q33.3\u2013q34), cortical development malformations (13q33.1\u2010qter), Dandy\u2013Walker malformation (DWM) (13q32.2\u2013q33.1), corpus callosum agenesis (CCA) (13q32.3\u2013q33.1), meningocele\/encephalocele (13q31.3\u2010qter), DWM, CCA, and neural tube defects (NTDs) taken together (13q32.3\u2013q33.1), ano\u2010\/microphthalmia (13q31.3\u201313qter), cleft lip\/palate (13q31.3\u201313q33.1), lung hypoplasia (13q31.3\u201313q33.1), and thumb a\u2010\/hypoplasia (13q31.3\u2013q33.1 and 13q33.3\u2013q34). Based on observations of this study and previous reports we suggest a new entity, \u201cdistal limb anomalies association,\u201d linked to 13q31.3q33.1 segment. Most of the individuals with deletion of any part of 13q21qter showed surprisingly similar facial dysmorphic features, and thus, a \u201c13q deletion facial appearance\u201d was suggested. Prominent nasal columella was mapped between 13q31.3 and 13q33.3, and micrognathia between 13q21.33 and 13q31.1. The degree of mental delay did not display a particular phenotype\u2013genotype correlation on chromosome 13. In contrast to previous reports of carriers of 13q32 band deletions as the most seriously affected patients, we present two such individuals with long\u2010term survival, 28 and 2.5 years. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32814","type":"journal-article","created":{"date-parts":[[2009,4,10]],"date-time":"2009-04-10T17:51:23Z","timestamp":1239385883000},"page":"894-905","source":"Crossref","is-referenced-by-count":96,"title":["Phenotype and 244k array\u2010CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 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