title: Isochromosome Xq in Klinefelter syndrome: report of 7 new cases.
abstract: In this collaborative study we report on 2 prenatally and 5 postnatally diagnosed cases with a 47,X,i(Xq),Y chromosomal constitution. Excepting tall stature, the 5 adult patients showed all typical manifestations of Klinefelter syndrome. Taken together with previously reported cases, these data suggest that Klinefelter syndrome with isochromosome Xq has a favorable prognosis with normal mental development, and with normal-to-short stature. The prevalence of this Klinefelter variant is calculated to be between 0.3-0.9% in males with X chromosome polysomies.
authors.affiliation: Labor Dres. Fenner, Abteilung Cytogenetik und Pränatale Diagnostik, Hamburg, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Arps
authors.forename: T
authors.initials: T
authors.lastname: Koske-Westphal
authors.forename: P
authors.initials: P
authors.lastname: Meinecke
authors.forename: D
authors.initials: D
authors.lastname: Meschede
authors.forename: E
authors.initials: E
authors.lastname: Nieschlag
authors.forename: W
authors.initials: W
authors.lastname: Harprecht
authors.forename: E
authors.initials: E
authors.lastname: Steuber
authors.forename: E
authors.initials: E
authors.lastname: Back
authors.forename: G
authors.initials: G
authors.lastname: Wolff
authors.forename: S
authors.initials: S
authors.lastname: Kerber
authors.forename: K R
authors.initials: KR
authors.lastname: Held
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D018404:Isochromosomes / Q000235:genetics*; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D014960:X Chromosome