[Karyotype-phenotype correlation in a 46,Xdel(X) (p22) diagnosis (author's transl)].
In a patient with a height of 1.46 m, short neck and cubitus valgus the unbalanced karyotype 46,Xdel(X)(p22) was found. The mother of the proband has the balanced karyotype 46,Xt(X;15)(p22;p1). The mother is 1.56 m tall and has a short neck and cubitus valgus too. For this reason the deletion of the Xp22 band seems to cause the short stature of Turner patients. Our proband has had 2 pregnancies which ended as abortions in the 2nd and 4th month. As Giraud et al. (1974) have shown the deletion of the dark middle bande of the short X chromosome arm induces a slight dysgenesie of the gonade.
D000022:Abortion, Spontaneous / Q000235:genetics; D000328:Adult; D001827:Body Height; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012730:Sex Chromosomes
Karyotyp-Phenotyp-Korrelation bei einem 46,Xdel(X)(p22)-Befund