PMID: 10710225Mar 10, 2000Paper

Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis

American Journal of Medical Genetics
A SolerF Ballesta

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.

Citations

Apr 30, 2013·Journal of Assisted Reproduction and Genetics·Elizabeth X WuSai Ma

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