Prenatal diagnosis and genetic analysis of a fetus with 47,XX,+21/46,XX mosaicism and XX/XY chimerism

Journal of the Formosan Medical Association = Taiwan Yi Zhi
Hsiao-Lin HwaLi-Shu Chang


Prenatal diagnosis of simultaneous occurrence of chimerism and autosomal mosaicism is extremely rare. We report the prenatal diagnosis and genetic analysis of a fetus in a twin pregnancy with mosaic 47,XX,+21/46,XX with chimeric XX/XY. A 36-year-old, para 1, woman was referred for genetic counseling at 20 weeks' gestation because of abnormal karyotype (47,XX,+21/46,XX) in one fetus in a twin pregnancy. Cordocentesis revealed 47,XX,+21[3]/46,XX[35]/46,XY[7] in this fetus. Postnatal cytogenetic analysis of cord blood confirmed three cell lines in this twin (A) and 46,XY in the co-twin (B). Postmortem pathologic findings of both fetuses were normal. Fluorescence in situ hybridization identified three cell lines in the cord blood of twin A. Molecular genetic analysis using polymorphic DNA markers revealed parental origin of fetal tissue, and confirmed the chimeric status. Molecular genetic analysis with polymorphic DNA markers help to differentiate chimerism from mosaicism and define the origin of cell lines, which may have importance in genetic counseling.


Jul 1, 1988·Prenatal Diagnosis·A S FreibergJ Mann
Dec 1, 1987·Journal of Medical Genetics·T I FaragM H el-Badramany
Jan 1, 1984·Prenatal Diagnosis·R G Worton, R Stern
Jan 22, 1996·American Journal of Medical Genetics·B A van DijkA J de Man
Jan 16, 1998·The New England Journal of Medicine·L StrainD T Bonthron
Dec 11, 1999·Prenatal Diagnosis·L Y Hsu, P A Benn

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