DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL

Maurizio Genuardi, B Bardoni, Giorgio Floridia, Pietro Chiurazzi, G Scarano, Marcella Zollino, N Garcea, M Martinineri, G Neri

Risultato della ricerca: Contributo in rivistaArticolo in rivista

Abstract

The nature of a non-mosaic marker Y chromosome observed in a pseudohermaphrodite patient with Leydig cell agenesis was investigated by high-resolution chromosome analysis and molecular probes from the Y chromosome. Cytogenetically, the marker chromosome appeared to be an isodicentric, with breakage in Yq11.21. Double copies of all Yp-specific loci tested, including SRY, were present. The most distal Yq portion detected in patient DNA was DXS278-C, which maps to interval D in the chromosome Yq deletion map. Fragment DXS278-B, which maps to deletion interval E, was absent. The possible relationship between this cytogenetic abnormality and Leydig cell agenesis, a finding never reported in association with Y chromosome rearrangements, is discussed.
Lingua originaleEnglish
pagine (da-a)38-41
Numero di pagine4
RivistaClinical Genetics
Volume47
Stato di pubblicazionePubblicato - 1995

Keywords

  • DELETION MAP
  • DETERMINING REGION
  • ENCODES
  • GENE
  • HOMOLOGY
  • HYPOPLASIA
  • LOCUS
  • PROTEIN
  • X-CHROMOSOME

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