TY - JOUR
T1 - Genome-Wide Detection of Uniparental Disomy in a Fetus with Intrauterine Growth Restriction Using Genotyping Microarrays
AU - Soong, Yung Kuei
AU - Wang, Tzu Hao
AU - Lee, Yun Shien
AU - Chen, Chih Ping
AU - Chang, Chia Lin
AU - Ho, Szu Ying
AU - Chao, An Shine
AU - Cheng, Po Jen
AU - Chang, Shuenn Dyh
PY - 2009/6
Y1 - 2009/6
N2 - 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.
AB - 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.
KW - microarray-based comparative genomic hybridization
KW - single nucleotide polymorphism markers
KW - uniparental disomy
UR - http://www.scopus.com/inward/record.url?scp=67749108256&partnerID=8YFLogxK
U2 - 10.1016/S1028-4559(09)60277-1
DO - 10.1016/S1028-4559(09)60277-1
M3 - 文章
C2 - 19574178
AN - SCOPUS:67749108256
SN - 1028-4559
VL - 48
SP - 152
EP - 158
JO - Taiwanese Journal of Obstetrics and Gynecology
JF - Taiwanese Journal of Obstetrics and Gynecology
IS - 2
ER -