Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 1 , Pages 1-8, March 2007

Chromosomal Abnormalities Associated With Omphalocele

  • Chih-Ping Chen

      Affiliations

    • Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Biotechnology and Bioinformatics, Asia University, Taichung, Taiwan
    • College of Chinese Medicine, China Medical University, Taichung, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei 104, Taiwan

Accepted 10 February 2007.

Article Outline

Summary 

Fetuses with omphalocele have an increased risk for chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with umbilical cord cysts, complexity of associated anomalies, and the contents of omphalocele. There is considerable evidence that genetics contributes to the etiology of omphalocele. This article provides an overview of chromosomal abnormalities associated with omphalocele and a comprehensive review of associated full aneuploidy such as trisomy 18, trisomy 13, triploidy, trisomy 21, 45,X, 47,XXY, and 47,XXX, partial aneuploidy such as dup(3q), dup(11p), inv(11), dup(1q), del(1q), dup(4q), dup(5p), dup(6q), del(9p), dup(15q), dup(17q), Pallister-Killian syndrome with mosaic tetrasomy 12p and Miller-Dieker lissencephaly syndrome with deletion of 17p13.3, and uniparental disomy (UPD) such as UPD 11 and UPD 14. Omphalocele is a prominent marker for chromosomal abnormalities. Perinatal identification of omphalocele should alert chromosomal abnormalities and familial unbalanced translocations, and prompt thorough cytogenetic investigations and genetic counseling.

Key Words:  chromosomal abnormalities , genetics , omphalocele

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PII: S1028-4559(08)60099-6

doi:10.1016/S1028-4559(08)60099-6

Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 1 , Pages 1-8, March 2007

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