Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency.
Four girls with some clinical symptoms of Turner's syndrome had Xq duplication and Xp deficiency, their karyotypes being 46,X,dup(X)(p113;q11), 46,X,dup(X)(p212;q211), 46,X,dup(X)(p225;q13), and 46,X,dup(X)(p222;q213). No mosaicism was found. The major clinical findings, short stature, lack of pterygium colli, and no continuous gamete production, are compared with those in three previously published cases.
D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D012730:Sex Chromosomes / Q000648:ultrastructure*; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome / Q000648:ultrastructure*