부산대학교 도서관

To purchase or authenticate to the full-text of this article, please visit this link: http://dx.doi.org/10.1111/j.1399-0004.2008.01110.x Byline: SB Freeman (a), CP Torfs (b), PA Romitti (c), MH Royle (d), C Druschel (e), CA Hobbs (f), SL Sherman (a) Keywords: anal atresia; Down syndrome; duodenal atresia; esophageal atresia; Hirschsprung disease; trisomy 21 Abstract: We report Down syndrome (DS)-associated congenital gastrointestinal (GI) defects identified during a 15 year, population-based study of the etiology and phenotypic consequences of trisomy 21. Between 1989 and 2004, six sites collected DNA, clinical and epidemiological information on live-born infants with standard trisomy 21 and their parents. We used chi-squared test and logistic regression to explore relationships between congenital GI defects and infant sex, race, maternal age, origin of the extra chromosome 21, and presence of a congenital heart defect. Congenital GI defects were present in 6.7% of 1892 eligible infants in this large, ethnically diverse, population-based study of DS. Defects included esophageal atresia/tracheoesophageal fistula (0.4%), pyloric stenosis (0.3%), duodenal stenosis/atresia (3.9%), Hirschsprung disease (0.8%), and anal stenosis/atresia (1.0%). We found no statistically significant associations between these defects and the factors examined. Although not significant, esophageal atresia was observed more often in infants of younger mothers and Hispanics, Hirschsprung disease was more frequent in males and in infants of younger mothers and blacks, and anal stenosis/atresia was found more often among females and Asians. Author Affiliation: (a)Department of Human Genetics, Emory University, Atlanta, GA, USA (b)Public Health Institute, Birth Defects Studies, Emeryville, CA, USA (c)Department of Epidemiology, College of Public Health, University of Iowa, Iowa City, IA, USA (d)New Jersey Department of Health and Senior Services, Trenton, NJ, USA (e)New York State Department of Health, Troy, NY, USA (f)Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, USA Article History: Received 15 July 2008, revised and accepted for publication 29 August 2008 Article note: Sallie B. Freeman, PhD, Department of Human Genetics, Emory University, 2165 North Decatur Rd, Decatur, GA 30033, USA., Tel.: 804-233-4607; fax: 404-778-8562; , e-mail: sfreeman@genetics.emory.edu