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Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15)

✍ Scribed by Thomas Eggermann; Sabrina Spengler; Nadine Bachmann; Michael Baudis; Ulrike A. Mau-Holzmann; Sylke Singer; Eva Rossier

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
143 KB
Volume
152A
Category
Article
ISSN
1552-4825

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Prenatal diagnosis of a der(X)t(X;15)(p22.2;q11.2) inherited from a maternal translocation X;15
✍ Jaime Garcia-Heras; Janet E. Ulm; David E. Shaver; Eric Hall; Irene A. Saikevych πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 129 KB

A karyotype 46,X,der(X)t(X;15)(p22.2;q11.2) derived from a maternal translocation X;15 was ascertained in a female fetus through an abnormal triple screen test at 16 weeks that gave a 1/56 risk for Down syndrome. The pregnancy was terminated at 19.5 weeks and anatomopathologic studies showed fewer m