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Article

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

American journal of medical genetics - 14 Feb 2000

Soler A, Margarit E, Queralt R, Carrió A, Costa D, Gómez D, Ballesta F

Abstract excerpt

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...

Topics

Chorionic Villi Sampling
Chromosome Aberrations
Chromosomes, Human, Pair 13
Fathers
Female
Genomic Imprinting
Humans
Infant, Newborn
Karyotyping
Male
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

Trisomy

Source

Identifiers

PMID: 10710225

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