A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea

Ann Genet. 2002 Jul-Sep;45(3):137-40. doi: 10.1016/s0003-3995(02)01121-8.

Abstract

A complex mosaicism involving the X chromosome was found in a 35-year-old female affected by secondary amenorrhea and short stature. Her karyotype was: 45,X[20]/46,X,del(X)(pter-->q26::qter)[15]/46,X,idic(X)(pter-->q26::q26-->pter)[9]. No cell contained both abnormal X chromosomes. This observation would suggest a possible mechanism underlying the formation of isodicentric chromosomes.

MeSH terms

  • Adolescent
  • Adult
  • Amenorrhea / etiology
  • Amenorrhea / genetics*
  • Chromosomes, Human, X*
  • Female
  • Humans
  • Mosaicism*
  • Sex Chromosome Aberrations*
  • Sex Chromosome Disorders / genetics*