Non‐mosaic isodicentric X‐chromosome in a patient with secondary amenorrhea

G. Ponzio, F. Chiodo, M. Messina, N. Surico, E. Libanori, E. Folpini, A. Porcelli, C. Marchese

Research output: Contribution to journalArticlepeer-review

Abstract

An isodicentric X‐chromosome idic(X) (pter→ q26.1::q26.1 → pter) was found in lymphocytes and ovarian tissue of a 40‐year‐old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype‐karyotype correlation of our case and of previously described non‐mosaic cases of idic(X) (q::q) with different breakpoints is discussed.

Original languageEnglish
Pages (from-to)20-23
Number of pages4
JournalClinical Genetics
Volume32
Issue number1
DOIs
Publication statusPublished - Jul 1987
Externally publishedYes

Keywords

  • X‐chromosome
  • X‐chromosome deletions and fertility
  • phenotype‐karyotype correlation

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