title: A 92,XXXY Miscarriage Consecutive to a Digynic Triploid Pregnancy.
abstract: The patient was referred for prenatal diagnosis due to the sonographic finding of a polymalformed male fetus, and an amniocentesis was performed before termination of pregnancy. The pathological study of the placenta did not show morphological alterations. In her next pregnancy, sonographic examination disclosed a missed abortion with a visible embryo, and a chorionic villi sample was obtained for cytogenetic analysis before evacuation. Macroscopic examination of the villi sample did not reveal molar vesicular appearance. QF-PCR and cytogenetic analyses were performed on amniotic fluid (first pregnancy) and chorionic villi samples (second pregnancy). A 69,XXY and 92,XXXY karyotype was found, respectively. QF-PCR results disclosed 2 maternal and 1 paternal alleles in the first pregnancy (digynic triploidy), and double maternal and double paternal contribution to the tetraploid pregnancy. Among the few reported cases of 92,XXXY tetraploidy, those associated with partial moles show a PPPM genotype (3 paternal and 1 maternal alleles), and the only case with a PPMM genotype was found in a spontaneously aborted fetus similar to our case. We are not aware of other cases with combination of a digynic triploid pregnancy and a tetraploid pregnancy with a PPMM contribution. Our case adds evidence to the influence of the balance between paternal and maternal genomic doses on the phenotype.
authors.affiliation: Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, Barcelona, Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Soler
authors.forename: Cèlia
authors.initials: C
authors.lastname: Badenas
authors.forename: Ester
authors.initials: E
authors.lastname: Margarit
authors.forename: Irene
authors.initials: I
authors.lastname: Madrigal
authors.forename: Míriam
authors.initials: M
authors.lastname: Muñoz
authors.forename: Virginia
authors.initials: V
authors.lastname: Borobio
authors.forename: Aurora
authors.initials: A
authors.lastname: Sánchez
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000483:Alleles; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics; D008297:Male; D000072741:Maternal Inheritance / Q000235:genetics; D018895:Microsatellite Repeats; D000072740:Paternal Inheritance / Q000235:genetics; D011247:Pregnancy; D057891:Tetraploidy; D057885:Triploidy