1997•NeurologyRequires access

Xp21 Muscular dystrophy due to X chromosome inversion

Peter Baxter, Edna L. Maltby, Oliver Quarrell

Abstract

Two brothers with Duchenne muscular dystrophy have an inversion of the X chromosome, 46, Y, inv(X) (p11.2p21.2). Because their mother is an unaffected carrier of the inversion, this confirms that maternal passage of a structurally abnormal X chromosome can cause dystrophinopathy in males. Our experience suggests that as well as molecular genetic analysis, karyotyping can be useful in Xp21 muscular dystrophy.

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Key concepts: Muscular dystrophy, X chromosome, Duchenne muscular dystrophy, Karyotype, Chromosomal inversion, Genetics, X-inactivation, Biology