An infertile woman was examined cytogenetically and was found to have deletions of portions of the long arm and short arm of the chromosome X, resulting in a ring chromosome, 46,X,r(X). Which of the following is the most likely diagnosis?

Question

Quizplus · Accepted Answer

A ring chromosome, 46,X,r(X), is found in patients with Turner syndrome. Such patients are in a minority, since most patients with Turner syndrome (57%) actually have a 45,X karyotype and lack one of the two X chromosomes.

An Infertile Woman Was Examined Cytogenetically and Was Found to Have