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Paternal Isodisomy 13 in a Normal Newborn Infant After Trisomy Rescue Evidenced by Prenatal Diagnosis by Soler, Anna; Margarit, Ester; Queralt, Rosa; Carri, Ana; Costa, Dolors; Gmez, David; Ballesta, Francisca is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Paternal Isodisomy 13 in a Normal Newborn Infant After Trisomy Rescue Evidenced by Prenatal Diagnosis about?
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.
Who reads Paternal Isodisomy 13 in a Normal Newborn Infant After Trisomy Rescue Evidenced by Prenatal Diagnosis?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Soler, Anna; Margarit, Ester; Queralt, Rosa; Carri, Ana; Costa, Dolors; Gmez, David; Ballesta, Francisca
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)
- Published
- 2000
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)