Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal.
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.
Genuardi
M
M
Istituto di Genetica Medica, Facoltà di Medicina e Chirurgia A. Gemelli, Università Cattolica del S. Cuore, Roma, Italy.
Bardoni
B
B
Floridia
G
G
Chiurazzi
P
P
Scarano
G
G
Zollino
M
M
Garcea
N
N
Martini-Neri
M E
ME
Neri
G
G
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
D005819:Genetic Markers