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

S. Calvano, G. P. De Cillis, A. I. Croce, G. Perla, A. Notarangelo, L. Zelante

Research output: Contribution to journalArticlepeer-review

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::q26pter)[9]. No cell contained both abnormal X chromosomes. This observation would suggest a possible mechanism underlying the formation of isodicentric chromosomes.

Original languageEnglish
Pages (from-to)137-140
Number of pages4
JournalAnnales de Genetique
Volume45
Issue number3
DOIs
Publication statusPublished - Jul 2002

Keywords

  • Complex gonosomes mosaicism
  • Turner syndrome
  • X structural abnormalities

ASJC Scopus subject areas

  • Genetics

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