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Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14

โœ Scribed by Joerg Mattes; Bruce Whitehead; Thomas Liehr; Ian Wilkinson; John Bear; Kerry Fagan; Paul Craven; Bruce Bennetts; Matthew Edwards


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
204 KB
Volume
143A
Category
Article
ISSN
1552-4825

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Maternal uniparental isodisomy for chrom
โœ Adrianne Ralph; Fergus Scott; Catherine Tiernan; Madeleine Caubere; Samantha Kol ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 137 KB

Maternal uniparental disomy (UPD) for chromosome 14 (upd(14)mat) has been associated with a distinct phenotype. We describe the first case of maternal uniparental isodisomy for chromosome 14 detected prenatally, in a pregnancy with mosaicism for trisomy 14 observed in both a chorionic villus sample