title: Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis.
abstract: Maternal and paternal uniparental disomy of chromosome 13 have been associated with normal phenotypes. We report on a new case of paternal isodisomy 13 in a phenotypically normal girl. Prenatal diagnosis had shown a 46,XX,-13,der(13;13) karyotype in chorionic villi and a 45,XX,der(13;13) karyotype in amniocytes and fetal blood. Molecular studies demonstrated that the de novo der(13;13) was an isochromosome 13 of paternal origin. This observation supports the lack of imprinting effects on chromosome 13 and trisomy rescue as a mechanism leading to uniparental disomy in cases involving isochromosomes.
authors.affiliation: Servei de Genètica, Hospital Clínic, Barcelona, Spain. asoler@clinic.ub.es
authors.forename: A
authors.initials: A
authors.lastname: Soler
authors.forename: E
authors.initials: E
authors.lastname: Margarit
authors.forename: R
authors.initials: R
authors.lastname: Queralt
authors.forename: A
authors.initials: A
authors.lastname: Carrió
authors.forename: D
authors.initials: D
authors.lastname: Costa
authors.forename: D
authors.initials: D
authors.lastname: Gómez
authors.forename: F
authors.initials: F
authors.lastname: Ballesta
mesh_terms: D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D005220:Fathers; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011296:Prenatal Diagnosis; D014314:Trisomy