Fertility and X-chromosome rearrangements: isodicentric X-chromosome formation in the mother and Xp deletion in her daughter.
In the present paper we report the first example of fertility in a female with isodicentric X-formation and karyotype 45,X/46,X,del(X)(pter----p21.3)/46,X,idic(X)(qter----p21.3::p21.3- ---qter). Her daughter was phenotypically almost normal and presented a 46,X,del(X)(pter----p21.3) karyotype in all examined cells.
Fryns
J P
JP
Department of Human Biology, University of Leuven, Belgium.
Kleczkowska
A
A
Debucquoy
P
P
van den Berghe
H
H
D000328:Adult; D002872:Chromosome Deletion; D002875:Chromosomes / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007223:Infant; D007247:Infertility, Female / Q000235:genetics*; D007621:Karyotyping; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014178:Translocation, Genetic