Isochromosome Xq in Klinefelter syndrome: report of 7 new cases.
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.
Arps
S
S
Labor Dres. Fenner, Abteilung Cytogenetik und Pränatale Diagnostik, Hamburg, Germany.
Koske-Westphal
T
T
Meinecke
P
P
Meschede
D
D
Nieschlag
E
E
Harprecht
W
W
Steuber
E
E
Back
E
E
Wolff
G
G
Kerber
S
S
Held
K R
KR
D000328:Adult; D005260:Female; D006801:Humans; D018404:Isochromosomes / Q000235:genetics*; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D014960:X Chromosome