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Mutations in the <jats:italic>AAAS<\/jats:italic> gene have been identified in triple A syndrome patients; however, the function of this gene is still obscure. We used classical and high\u2010resolution chromosome analyses along with chromosome painting and DNA sequencing to study patients with triple A syndrome. We observed abnormalities in the heterochromatic region of chromosome 9 that included chromatid breaks, chromosome breaks, whole chromosome arm loss, and marker chromosomes, which occurred at unusually high frequencies in affected patients and heterozygotes. Our study raises the possibility of an association between chromosomal fragility in band 9q12 and triple A syndrome. Further investigation is necessary to understand the biologic basis of this finding in the context of triple A syndrome. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10846","type":"journal-article","created":{"date-parts":[[2003,1,27]],"date-time":"2003-01-27T16:33:06Z","timestamp":1043685186000},"page":"30-36","source":"Crossref","is-referenced-by-count":14,"title":["Chromosomal fragility in patients with triple A syndrome"],"prefix":"10.1002","volume":"117A","author":[{"given":"Shalini","family":"Reshmi\u2010Skarja","sequence":"first","affiliation":[]},{"given":"Angela","family":"Huebner","sequence":"additional","affiliation":[]},{"given":"Katrin","family":"Handschug","sequence":"additional","affiliation":[]},{"given":"David N.","family":"Finegold","sequence":"additional","affiliation":[]},{"given":"Adrian J.L.","family":"Clark","sequence":"additional","affiliation":[]},{"given":"Susanne M.","family":"Gollin","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2002,9,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)91268-0"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132181"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/edrv.19.6.0351"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530103"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1053\/beha.2000.0085"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283616"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260319"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(92)90102-E"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198307000-00003"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200508"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.283"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(88)90042-8"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90028-4"},{"key":"e_1_2_6_15_1","first-page":"277","article-title":"ACTH resistance syndromes","volume":"1","author":"Huebner A","year":"1999","journal-title":"J Pediatr Endocrinol Metab"},{"key":"e_1_2_6_16_1","volume-title":"An international system for human cytogenetic nomenclature","author":"ISCN","year":"1995"},{"key":"e_1_2_6_17_1","first-page":"270","article-title":"Associated disorders in Addison's disease in children. 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