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{"CNV":[{"remap_value":null,"short_description":"2q33.1 deletion syndrome","copy_number":1,"original_position":null,"remapped_from":null,"regclass":"core.syndrome_cnv","syndrome_id":51,"syndrome_cnv_id":50,"grade":1,"description":"\u003cb\u003eClinical:\u003c/b\u003e Severe mental retardation (microcephaly) and short stature were characteristic of the 13 patients reviewed by Van Buggenhout. All patients had a cleft or a high palate, presumably due to hemizygosity for \u003ci\u003eSATB2\u003c/i\u003e which is implicated in palate formation(Fitzpatrick).Common features were sparse thin hair, various ear anomalies and a lipodystrophy-like phenotype.\r\n\n\u003cb\u003eSize of deletion:\u003c/b\u003e Variable, the minimum deleted region in the 4 patients described by Van Guggenhout was 8.1Mb\r\n\n\u003cb\u003eOrigin of deletion:\u003c/b\u003e Unknown\r\n\n\u003cb\u003eExpert advisor:\u003c/b\u003e Thomy de Ravel, Center for Human Genetics, U.Z. Gasthuisberg, Herestraat 49, 3000 Leuven, Belgium\r\n\r\n\u003cb\u003eLinks to support groups:\u003c/b\u003e\r\nhttp://www.rarechromo.org/information/Chromosome%20%202/2q32%20deletions%20and%20microdeletions%20FTNW.pdf\n\n\n\u003cb\u003eLinks to further information:\u003c/b\u003e\r\nhttp://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251028\n\n","assembly":"GRCh37/hg19","end":205206939,"start":196925121,"updated":"2014-07-02 09:23:45.984257","created":"2014-07-02 09:23:46.298229","id":50,"chr":"2"}]}

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