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Author Notes:

Corresponding author: 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, sfreeman@genetics.emory.edu

We gratefully acknowledge the many families nationwide whose participation has made this study possible.

In addition, we want to thank all personnel at each NDSP site.

Subjects:

Research Funding:

This work was supported by NIH R01 HD38979, NIH P01 HD24605, F32 HD046337 and by the technical assistance of the General Clinical Research Center at Emory University (NIH/NCRR M01 RR00039).

Keywords:

  • Science & Technology
  • Life Sciences & Biomedicine
  • Genetics & Heredity
  • anal atresia
  • Down syndrome
  • duodenal atresia
  • esophageal atresia
  • Hirschsprung disease
  • trisomy 21
  • MATERNAL RISK-FACTORS
  • CARDIOVASCULAR MALFORMATIONS
  • HIRSCHSPRUNGS-DISEASE
  • BIRTH-DEFECTS
  • HEART-DEFECTS
  • DIAGNOSIS
  • INFANTS
  • ABNORMALITIES
  • ANOMALIES
  • STENOSIS

Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects

Tools:

Journal Title:

Clinical Genetics

Volume:

Volume 75, Number 2

Publisher:

, Pages 180-184

Type of Work:

Article | Post-print: After Peer Review

Abstract:

We report Down syndrome (DS)-associated congenital gastrointestinal (GI) defects identified during a 15year, 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.

Copyright information:

© 2008 Blackwell Munksgaard.

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