Ring chromosome 21 in healthy persons: different consequencies in females and in males

B. Dallapiccola, V. De Filippis, A. Notarangelo, G. Perla, L. Zelante

Research output: Contribution to journalArticle

Abstract

A stable ring chromosome 21 was found in an azoospermic man with an otherwise normal phenotype. Meiotic studies in another known azoospermic male with r(21) had indicated that breakdown of spermatogenesis resulted from pairing failure of chromosome 21, followed by degenerative changes in the chromosomes, before the cells had completed the first meiotic division. While primary sterility was a constant feature in the three adult males, eight healthy females with r(21) were fertile. However, they were at risk for Down syndrome and spontaneous abortions.

Original languageEnglish
Pages (from-to)218-220
Number of pages3
JournalHuman Genetics
Volume73
Issue number3
DOIs
Publication statusPublished - Jul 1986

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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