Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 2 , Pages 152-158, June 2009

Genome-Wide Detection of Uniparental Disomy in a Fetus with Intrauterine Growth Restriction Using Genotyping Microarrays

  • Yung-Kuei Soong

      Affiliations

    • Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Yung-Kuei Soong, Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, 5, Fu-Hsing Street, Tao-Yuan 333, Taiwan
    • ,
  • Tzu-Hao Wang

      Affiliations

    • Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
    • Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Taiwan
    • ,
  • Yun-Shien Lee

      Affiliations

    • Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Taiwan
    • Department of Biotechnology, Ming-Chuan University, Tao-Yuan, Taiwan
    • ,
  • Chih-Ping Chen

      Affiliations

    • Department of Obstetrics and Gynecology and Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • ,
  • Chia-Lin Chang

      Affiliations

    • Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
    • ,
  • Szu-Ying Ho

      Affiliations

    • Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
    • Department of Obstetrics and Gynecology, Cathay General Hospital, Hsinchu branch, Hsinchu, Taiwan
    • ,
  • An-Shine Chao

      Affiliations

    • Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
    • ,
  • Po-Jen Cheng

      Affiliations

    • Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
    • ,
  • Shuenn-Dyh Chang

      Affiliations

    • Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan

Accepted 10 March 2009.

Article Outline

Summary 

Objective

To present the clinical and molecular features of a fetus with confined trisomy 16 mosaicism with maternal uniparental disomy (UPD), using various prenatal diagnostic techniques.

Materials and Methods

Chromosomal karyotyping was performed on samples of chorionic villi, amniotic fluid cells, amniotic membrane, umbilical cord, fetal skin, and placenta from a fetus with elevated nuchal translucency. Polymorphic short tandem repeat markers and Affymetrix single nucleotide polymorphism (SNP) mapping chips were used for molecular analyses.

Results

Karyotypes from chorionic villi and amniocytes showed 47, XX, +16 and 46, XX, respectively. Short tandem repeat markers on chromosome 16 suggested maternal UPD for chromosome 16. Affymetrix 10K SNP mapping chips were used to simultaneously confirm the difference in karyotypes between the placenta and amniocytes and to diagnose UPD for chromosome 16. Fetal ultrasonography and magnetic resonance imaging identified severe intrauterine growth restriction (IUGR). Autopsy revealed IUGR, incomplete lobulation of bilateral lungs, and malrotation of the intestines. The karyotypes of umbilical cord, fetal skin and amniotic membrane were 46, XX, and the trisomy 16 karyotype appeared to be confined to the placenta.

Conclusion

UPD should be investigated as a possible etiology in all cases of unexplained IUGR. SNP microarrays can be useful for confirming this diagnosis.

Key Words:  microarray-based comparative genomic hybridization , single nucleotide polymorphism markers , uniparental disomy

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PII: S1028-4559(09)60277-1

doi:10.1016/S1028-4559(09)60277-1

Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 2 , Pages 152-158, June 2009

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