Reproductive consequences of genome-wide paternal uniparental disomy mosaicism: description of two cases with different mechanisms of origin and pregnancy outcomes
Received 27 January 2009; received in revised form 4 March 2009; accepted 26 March 2009. published online 13 May 2009.
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.
Design
Case study and literature review.
Setting
Tertiary medical center (prenatal diagnosis unit).
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.
Intervention(s)
Ultrasound examination, prenatal invasive procedures, molecular and cytogenetic analysis, physical and pathologic evaluation, and genetic counseling.
Main Outcome Measure(s)
Cytogenetic analysis, fluorescent in situ hybridization, and quantitative fluorescence polymerase chain reaction (QF-PCR) analysis.
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.
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.
eInstitut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain
Reprint requests: Anna Soler, Ph.D., Servei de Bioquímica i Genètica Molecular, Mejía Lequerica s/n, 08028 Barcelona, Spain (FAX: +34 93 227 56 68).
C.M. has nothing to disclose. A.S. has nothing to disclose. C.B. has nothing to disclose. L.R.-R. has nothing to disclose. A.N. has nothing to disclose. J.M. has nothing to disclose. I.M.-S. has nothing to disclose. A.B. has nothing to disclose. M.M. has nothing to disclose. A.S. has nothing to disclose.
The first two authors contributed equally to this paper.
Supported in part by grants PI07/0385 (IP. A.Sánchez) and PI05/0096 (IP. A.Soler) from Fondo de Investigaciones Sanitarias del Ministerio de Sanidad y Consumo, Spain.
ABSTRACT