Molecular studies in three patients with isodicentric Y chromosome

Liborio Stuppia, Giuseppe Calabrese, Paolo Guanciali Franchi, Rita Mingarelli, Elisena Morizio, Giuseppe Sabatino, Giandomenico Palka

Research output: Contribution to journalArticlepeer-review


Three patients carrying an isodicentric (idic) Y chromosome associated with a mosaic 45,X cell line were studied using molecular techniques. Genotype-phenotype correlations suggested an effect of the 45,X cell line on sexual differentiation. A relationship was established between instability of the idic(Y) chromosome and localization of the breakpoint on Yq, and between azoospermia and deletion of interval 6 on Yq.

Original languageEnglish
Pages (from-to)691-695
Number of pages5
JournalHuman Genetics
Issue number6
Publication statusPublished - Dec 1996

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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