TRISOMY 2: CONFINED PLACENTAL MOSAICISM IN A FETUS WITH INTRAUTERINE GROWTH RETARDATION
- 1 February 1997
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 17 (2) , 180-183
- https://doi.org/10.1002/(sici)1097-0223(199702)17:2<180::aid-pd31>3.0.co;2-#
Abstract
In a pregnancy that was monitored due to increased risk for Down syndrome in the triple test, a normal karyotype was found in amniocentesis. Follow-up by serial ultrasound examinations revealed intrauterine growth retardation (IUGR) at 20 weeks of gestation. The parents decided to terminate the pregnancy and the karyotype of the placental fibroblasts was 47,XX,+2. Analysis of polymorphic markers of chromosome 2 demonstrated (a) that trisomy 2 was confined to the placenta (CPM), (b) that the trisomy 2 cell line was a result of a meiotic I error of paternal origin, and (c) that the fetal tissues with a normal karyotype were biparental disomy 2.Keywords
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