Back to Search
Start Over
Reproductive consequences of genome-wide paternal uniparental disomy mosaicism: description of two cases with different mechanisms of origin and pregnancy outcomes.
- Source :
-
Fertility and sterility [Fertil Steril] 2009 Jul; Vol. 92 (1), pp. 393.e5-9. Date of Electronic Publication: 2009 May 13. - Publication Year :
- 2009
-
Abstract
- Objective: To describe the molecular and cytogenetic characterization of two different prenatal cases of androgenetic/biparental mosaicism and review the different possible mechanisms of origin in each case.<br />Design: Case study and literature review.<br />Setting: Tertiary medical center (prenatal diagnosis unit).<br />Patient(s): A 26-year-old pregnant woman referred for suspected partial mole placenta and a 33-year-old pregnant woman referred for polyhydramnios and fetal malformations.<br />Intervention(s): Ultrasound examination, prenatal invasive procedures, molecular and cytogenetic analysis, physical and pathologic evaluation, and genetic counseling.<br />Main Outcome Measure(s): Cytogenetic analysis, fluorescent in situ hybridization, and quantitative fluorescence polymerase chain reaction (QF-PCR) analysis.<br />Result(s): The finding of a normal karyotype together with a triploidy-like QF-PCR profile led to the diagnosis of two cases of androgenetic (genome-wide paternal uniparental disomy)/biparental mosaicism. The first case showed placental mesenchymal dysplasia and a normal fetus, and the second one presented a fetus showing Beckwith-Wiedemann syndrome features and an apparently normal placenta.<br />Conclusion(s): These cases highlight the wide range of possible clinical presentations of androgenetic/biparental mosaicism, the variety of mechanisms of their origin, and the importance of the combination of molecular and cytogenetic analysis to achieve an accurate diagnosis and provide reproductive counseling.
Details
- Language :
- English
- ISSN :
- 1556-5653
- Volume :
- 92
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Fertility and sterility
- Publication Type :
- Academic Journal
- Accession number :
- 19442969
- Full Text :
- https://doi.org/10.1016/j.fertnstert.2009.03.090