Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis.
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.
Soler
A
A
Servei de Genètica, Hospital Clínic, Barcelona, Spain. asoler@clinic.ub.es
Margarit
E
E
Queralt
R
R
Carrió
A
A
Costa
D
D
Gómez
D
D
Ballesta
F
F
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