Author(s): James RS, Dalton P, Gustashaw K, Wolff DJ, Willard HF,
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Abstract We have undertaken a study of 35 patients with i(Xq) to determine whether those that are maternally derived originate by similar mechanisms to those that are paternally derived. Isochromosome formation is not associated with increased parental age and > 90\% of i(Xq) contain proximal Xp sequences suggesting that centromere misdivision is not a common mechanism of formation. Our results indicate that the majority of i(Xq) originate from a single X chromosome and the usual mechanisms of formation do not appear to differ according to the parent of origin.
This article was published in Ann Hum Genet
and referenced in Journal of Genetic Syndromes & Gene Therapy