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Prenatal diagnosis of a der(X)t(X;15)(p22.2;q11.2) inherited from a maternal translocation X;15

✍ Scribed by Jaime Garcia-Heras; Janet E. Ulm; David E. Shaver; Eric Hall; Irene A. Saikevych

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 129 KB
Volume: 18
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199807)18:7<747::aid-pd332>3.0.co;2-0

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✦ Synopsis

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 malformations than other fetal trisomies 15. This is the first prenatal identification of an unbalanced t(X;15).

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