title: Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal.
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.
authors.affiliation: Istituto di Genetica Medica, Facoltà di Medicina e Chirurgia A. Gemelli, Università Cattolica del S. Cuore, Roma, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Genuardi
authors.forename: B
authors.initials: B
authors.lastname: Bardoni
authors.forename: G
authors.initials: G
authors.lastname: Floridia
authors.forename: P
authors.initials: P
authors.lastname: Chiurazzi
authors.forename: G
authors.initials: G
authors.lastname: Scarano
authors.forename: M
authors.initials: M
authors.lastname: Zollino
authors.forename: N
authors.initials: N
authors.lastname: Garcea
authors.forename: M E
authors.initials: ME
authors.lastname: Martini-Neri
authors.forename: G
authors.initials: G
authors.lastname: Neri
mesh_terms: D000293:Adolescent; D012734:Disorders of Sex Development; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D007985:Leydig Cells / Q000648:ultrastructure*; D008297:Male; D012729:Sex Chromosome Aberrations; D013737:Testis / Q000002:abnormalities*; D014998:Y Chromosome
chemical_list: D005819:Genetic Markers