Reproductive consequences of genome-wide paternal uniparental disomy mosaicism: description of two cases with different mechanisms of origin and pregnancy outcomes.
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.


METHODS
Case study and literature review.


METHODS
Tertiary medical center (prenatal diagnosis unit).


METHODS
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.


METHODS
Ultrasound examination, prenatal invasive procedures, molecular and cytogenetic analysis, physical and pathologic evaluation, and genetic counseling.


METHODS
Cytogenetic analysis, fluorescent in situ hybridization, and quantitative fluorescence polymerase chain reaction (QF-PCR) analysis.


RESULTS
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.


CONCLUSIONS
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.
Morales
Carme
C
Servei de Bioquímica i Genètica Molecular, Mejía Lequerica s/n, Barcelona, Spain.
Soler
Anna
A
Badenas
Cèlia
C
Rodríguez-Revenga
Laia
L
Nadal
Alfons
A
Martínez
José M
JM
Mademont-Soler
Irene
I
Borrell
Antoni
A
Milà
Montserrat
M
Sánchez
Aurora
A
D000328:Adult; D015193:Chorionic Villi Sampling; D005260:Female; D015894:Genome, Human; D055106:Genome-Wide Association Study; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011256:Pregnancy Outcome; D024182:Uniparental Disomy / Q000235:genetics*