Confined placental mosaicism for trisomy 2 with intrauterine growth retardation and severe oligohydramnios in the absence of uniparental disomy in the fetus
TRISOMY 2: CONFINED PLACENTAL MOSAICISM IN A FETUS WITH INTRAUTERINE GROWTH RETARDATION
โ Scribed by ILANA ARIEL; ISRAELA LERER; SIMCHA YAGEL; RACHEL COHEN; ZIVA BEN-NERIAH; DVORAH ABELIOVICH
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 272 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0197-3851
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โฆ Synopsis
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.
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