The X isochromosome-X syndrome [46,X,i(Xq)]. Report of three cases with review of the phenotype

Clin Pediatr (Phila). 1977 Nov;16(11):1021-6. doi: 10.1177/000992287701601112.

Abstract

It is important not to confuse the 46,X,i(Xq) syndrome with the 45,X classical Turner's syndrome. There are profound cytogenetic and clinical differences between the two syndromes, which must be borne in mind in the differential diagnosis of amenorrhea and of infertility.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Amenorrhea / diagnosis
  • Amenorrhea / etiology
  • Child
  • Chromosomes*
  • Diagnosis, Differential
  • Female
  • Genitalia, Female / abnormalities
  • Growth Disorders / diagnosis
  • Growth Disorders / etiology
  • Humans
  • Infertility, Female / diagnosis
  • Infertility, Female / etiology
  • Karyotyping
  • Male
  • Menstruation Disturbances / diagnosis
  • Menstruation Disturbances / etiology
  • Sex Chromosome Aberrations* / diagnosis
  • Sex Chromosome Aberrations* / genetics
  • Syndrome
  • Turner Syndrome / diagnosis