title: Molecular characterization of isochromosomes of Xq.
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.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wilts, UK.
authors.forename: R S
authors.initials: RS
authors.lastname: James
authors.forename: P
authors.initials: P
authors.lastname: Dalton
authors.forename: K
authors.initials: K
authors.lastname: Gustashaw
authors.forename: D J
authors.initials: DJ
authors.lastname: Wolff
authors.forename: H F
authors.initials: HF
authors.lastname: Willard
authors.forename: C
authors.initials: C
authors.lastname: Mitchell
authors.forename: P A
authors.initials: PA
authors.lastname: Jacobs
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D018404:Isochromosomes; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D014424:Turner Syndrome / Q000235:genetics; D014960:X Chromosome