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Prenatal evaluation of a de novo X;9 translocation

✍ Scribed by Feldman, Baruch; Kramer, Ralph L.; Ebrahim, Salah A.D.; Wolff, Dayna J.; Evans, Mark I.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 11 KB
Volume: 85
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990827)85:5<476::aid-ajmg8>3.0.co;2-j

No coin nor oath required. For personal study only.

✦ Synopsis

A case of X-autosome translocation was diagnosed prenatally [46,X,t(X;9)(p21.3∼ 22.1;q22]. We describe the use of fluorescence in situ hybridization (FISH) to estimate the integrity of the Duchenne muscular dystrophy (DMD) gene. X-inactivation studies were used as well to assess the probability of phenotypic abnormalities associated with functional partial disomy X and monosomy 9.

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