Article Text

PDF

Pregnancy in a patient with 47,XX,i(Xq) karyotype.
  1. C R King,
  2. R N Schimke

    Abstract

    A phenotypically normal woman with a 47,XX,i(Xq) karyotype is reported. She has had two successful pregnancies monitored by prenatal diagnosis with the delivery of normal offspring. The presence of a structurally abnormal third X chromosome has not demonstrably affected this patient or her reproduction. The importance of the human X and Y chromosomes in sexual differentiation is readily apparent. Patients with anomalies of the X chromosome most frequently have clinical features of Turner's syndrome. Much less clearly defined are patients who possess additional X chromosome material. For example, triple X females are not easily distinguishable from 46,XX females. Only a few cases have been reported of patients who have a 47,XXX karyotype with the third X chromosome being structurally abnormal. This report describes a patient with a 47,XX,i(Xq) (qter leads to cen leads to qter) karyotype.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.