title: Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH.
abstract: Balanced reciprocal translocation is one of the known causes of recurrent spontaneous abortions. Cytogenetic studies of unbalanced miscarriages are difficult due to the growth failure of early loss and usually macerated abortions. We present a molecular study of an abortion in which the father carries a balanced reciprocal translocation t(2;17)(q32.1;q24.3) using QF-PCR and CGH techniques. DNA analysis showed the presence of a trisomy 2 due to a 3:1 interchange segregation. Recombinant events could also be investigated by comparing DNA samples from the family. We propose QF-PCR in addition to CGH as an efficient diagnostic method to improve our knowledge of unbalanced offspring in balanced translocation carriers.
authors.affiliation: Department of Genetics, Fundación Jiménez Díaz, Madrid, Spain. ilorda@fjd.es
authors.forename: Isabel
authors.initials: I
authors.lastname: Lorda-Sánchez
authors.forename: Dan
authors.initials: D
authors.lastname: Diego-Alvarez
authors.forename: Carmen
authors.initials: C
authors.lastname: Ayuso
authors.forename: Marta Rodríguez
authors.initials: MR
authors.lastname: de Alba
authors.forename: Maria Jose
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: Carmen
authors.initials: C
authors.lastname: Ramos
mesh_terms: D000022:Abortion, Spontaneous; D020090:Chromosome Segregation; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000175:diagnosis*
chemical_list: D004247:DNA