Skip to main content
SpringerLink
Log in

Molecular studies in three patients with isodicentric Y chromosome

  • Original investigation
  • Published:
Human Genetics Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

Author information

Authors and Affiliations

  1. Istituto di Citomorfologia Normale e Patologica del CNR, Chieti, Italy, , , , , , IT

    Liborio Stuppia

  2. Istituto di Biologia e Genetica, Università di Chieti, via dei Vestini, I-66013 Chieti, Italy Tel.: +39-871-355314; Fax: +39-871-355378, , , , , , IT

    Giuseppe Calabrese, Paolo Guanciali Franchi, Rita Mingarelli, Elisena Morizio & Giandomenico Palka

  3. Cattedra di Neonatologia, Università di Chieti, Italy, , , , , , IT

    Giuseppe Sabatino

Authors
  1. Liborio Stuppia
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Giuseppe Calabrese
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Paolo Guanciali Franchi
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Rita Mingarelli
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Elisena Morizio
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Giuseppe Sabatino
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Giandomenico Palka
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Received: 31 May 1996 / Revised: 12 July 1996

Rights and permissions

Reprints and permissions

About this article

Cite this article

Stuppia, L., Calabrese, G., Franchi, P. et al. Molecular studies in three patients with isodicentric Y chromosome. Hum Genet 98, 691–695 (1996). https://doi.org/10.1007/s004390050286

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s004390050286

Keywords

Search

Navigation