Rare interstitial deletion 9q31.2 to q33
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Ulrike Gamerdinger; Thomas Eggermann; Regine Schubert; Gesa Schwanitz; Martina K
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Article
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2008
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John Wiley and Sons
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English
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## Abstract The female carrier of a de novo interstitial deletion 9q [karyotype 46,XX,del(9)(q31.2q33.1)] was followed up over a period of more than 20 years. She shows facial dysmorphisms and significant growth retardation. Motor abilities are restricted by muscular hypotonia and malposition of th