title: Reproductive consequences of genome-wide paternal uniparental disomy mosaicism: description of two cases with different mechanisms of origin and pregnancy outcomes.
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.
  
  
  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.
authors.affiliation: Servei de Bioquímica i Genètica Molecular, Mejía Lequerica s/n, Barcelona, Spain.
authors.forename: Carme
authors.initials: C
authors.lastname: Morales
authors.forename: Anna
authors.initials: A
authors.lastname: Soler
authors.forename: Cèlia
authors.initials: C
authors.lastname: Badenas
authors.forename: Laia
authors.initials: L
authors.lastname: Rodríguez-Revenga
authors.forename: Alfons
authors.initials: A
authors.lastname: Nadal
authors.forename: José M
authors.initials: JM
authors.lastname: Martínez
authors.forename: Irene
authors.initials: I
authors.lastname: Mademont-Soler
authors.forename: Antoni
authors.initials: A
authors.lastname: Borrell
authors.forename: Montserrat
authors.initials: M
authors.lastname: Milà
authors.forename: Aurora
authors.initials: A
authors.lastname: Sánchez
mesh_terms: 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*