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Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal
Author(s) -
Genuardi Maurizio,
Bardoni Barbara,
Floridia Giovanna,
Chiurazzi Pietro,
Scarano Gioacchino,
Zollino Marcella,
Garcea Nicola,
MartiniNeri Maria Enrica,
Neri Giovanni
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb03919.x
Subject(s) - disorders of sex development , leydig cell , dicentric chromosome , agenesis , biology , karyotype , genetics , chromosome , endocrinology , luteinizing hormone , hormone , gene
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.