title: Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction.
abstract: Gonadal dysgenesis resulting in primary infertility is one of the most common features of Turner syndrome. There have been a number of cases described of pregnancy in 45,X subjects, but whether or not the fertility is associated with a 46,XX cell line in the germ cells is not known. We describe a 45,X/46,X,psu idic(Xq) female with normal fertility, in whom a cryptic 46,XX cell line was found in the germ cells.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.
authors.forename: R S
authors.initials: RS
authors.lastname: James
authors.forename: A J
authors.initials: AJ
authors.lastname: Sharp
authors.forename: A E
authors.initials: AE
authors.lastname: Cockwell
authors.forename: B
authors.initials: B
authors.lastname: Coppin
authors.forename: P A
authors.initials: PA
authors.lastname: Jacobs
mesh_terms: D000328:Adult; D019070:Cell Lineage; D005260:Female; D005298:Fertility / Q000235:genetics; D005854:Germ Cells; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D014424:Turner Syndrome; D014960:X Chromosome