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

✍ Scribed by Soler, Anna; Margarit, Ester; Queralt, Rosa; Carri�, Ana; Costa, Dolors; G�mez, David; Ballesta, Francisca

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 11 KB
Volume: 90
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000214)90:4<291::aid-ajmg5>3.0.co;2-b

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✦ Synopsis

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.

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