Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management

Am J Med Genet A. 2016 Jan;170A(1):233-8. doi: 10.1002/ajmg.a.37403. Epub 2015 Sep 26.


Carriers of isodicentric Y (idicY) mosaicism exhibit a wide range of clinical features, including short stature, gonadal abnormalities, and external genital anomalies. However, the phenotypic spectrum for individuals carrying an idicY and a 46, XX cell line is less clearly defined. A more complete description of the phenotype related to idicY is thus essential to guide management related to pubertal development, fertility, and gonadoblastoma risk in mosaic carriers. Findings from the evaluation of twin females with an abnormal karyotype, 48, XX, +idic(Yq) x2/47, XX, +idic(Yq)/46, XX, are presented to highlight the importance of interdisciplinary care in the management of multifaceted disorders of sex development.

Keywords: disorders of sex development; gonadoblastoma; interdisciplinary care; isodicentric Y; mosaicism.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Abnormal Karyotype*
  • Adolescent
  • Chromosomes, Human, X / genetics*
  • Chromosomes, Human, Y / genetics*
  • Cognition Disorders / genetics
  • Disorders of Sex Development / genetics*
  • Female
  • Humans
  • Mosaicism*
  • Sex Chromosome Aberrations*
  • Twins / genetics