title: Pregnancy in a patient with 47,XX,i(Xq) karyotype.
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.
mesh_terms: D000293:Adolescent; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics; D010641:Phenotype; D011247:Pregnancy; D012728:Sex Chromatin / Q000648:ultrastructure; D012729:Sex Chromosome Aberrations / Q000235:genetics; D012730:Sex Chromosomes; D014314:Trisomy; D014960:X Chromosome