Type and frequency of chromosome abnormalities in Turner syndrome

Karyotype	Percent (%)	Description
45,X	40 to 50	Monosomy X
45,X/46,XX	15 to 25	Monosomy X
45,X/47,XXX; 45,X/46,XX/47,XXX	3	Mosaicism with "Triple X"
45,X/46,XY	10 to 12	Mixed gonadal dysgenesis
46,XX, del(p22.3); 46,X,r(X)/46,XX	10 to 12	Deletion Xp22.3
46,XX, del(p22.3); 46,X,r(X)/46,XX	10 to 12	Ring X chromosome
46,X i(Xq); 46,X,idic(Xp)	(~10)	Isochromosome Xq; isodicentric Xp
X-autosome translocation, unbalanced	Rare	Various
46,XX,del(q24)	Rare	Not TS; premature ovarian failure
46,X,idic(X)(q24)	Rare	Not TS; isodicentric Xq24

Reproduced with permission from: Gravholt CH, Andersen NH, Conway GS, etc. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017; 177:G1. Copyright © 2017 BioScientifica Ltd. All rights reserved.

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Type and frequency of chromosome abnormalities in Turner syndrome