alexa Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal.
Reproductive Medicine

Reproductive Medicine

Gynecology & Obstetrics

Author(s): Genuardi M, Bardoni B, Floridia G, Chiurazzi P, Scarano G

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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.

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This article was published in Clin Genet and referenced in Gynecology & Obstetrics

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