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DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC\/PAC clones showed a 6.36\u2009Mb deletion in the 9p24.1\u2013p24.3 region and a 14.83\u2009Mb duplication in the 20p12.1\u2013p13 region, which derived from a maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is a well\u2010delineated chromosomal syndrome with characteristic clinical features, while chromosome 20p duplication is a rare genetic condition. Only a handful of cases of monosomy 9\/trisomy 20 have been previously described. In this report, we compare the phenotype of our patient with those already reported in the literature, and discuss the role of <jats:italic>DMRT<\/jats:italic>, <jats:italic>DOCK8<\/jats:italic>, <jats:italic>FOXD4<\/jats:italic>, <jats:italic>VLDLR<\/jats:italic>, <jats:italic>RSPO4<\/jats:italic>, <jats:italic>AVP<\/jats:italic>, <jats:italic>RASSF2<\/jats:italic>, <jats:italic>PROKR2<\/jats:italic>, <jats:italic>BMP2<\/jats:italic>, <jats:italic>MKKS<\/jats:italic>, and <jats:italic>JAG1<\/jats:italic>, all genes mapping to the deleted and duplicated regions. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34168","type":"journal-article","created":{"date-parts":[[2011,9,25]],"date-time":"2011-09-25T16:15:50Z","timestamp":1316967350000},"page":"2754-2761","source":"Crossref","is-referenced-by-count":11,"title":["Maternally inherited partial monosomy 9p (pter\u2009\u2192\u2009p24.1) and partial trisomy 20p (pter\u2009\u2192\u2009p12.1) characterized by microarray comparative genomic hybridization"],"prefix":"10.1002","volume":"155","author":[{"given":"\u00c9rika L.","family":"Freitas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan M.","family":"Gribble","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milena","family":"Simioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T\u00e1rsis P.","family":"Vieira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roseane L.","family":"Silva\u2010Grecco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marly A. 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