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 journalArticle

Abstract

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
Volume98
Issue number6
DOIs
Publication statusPublished - Dec 1996

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Fingerprint Dive into the research topics of 'Molecular studies in three patients with isodicentric Y chromosome'. Together they form a unique fingerprint.

  • Cite this

    Stuppia, L., Calabrese, G., Franchi, P. G., Mingarelli, R., Morizio, E., Sabatino, G., & Palka, G. (1996). Molecular studies in three patients with isodicentric Y chromosome. Human Genetics, 98(6), 691-695. https://doi.org/10.1007/s004390050286