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., Bardoni, B., Floridia, G., Chiurazzi, P., Scarano, G., Zollino, M., Garcea, N., Martinineri, M., Neri, G., DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL, <<CLINICAL GENETICS>>, 1995; 47 (1): 38-41 [https://hdl.handle.net/10807/219932]

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

Genuardi, M;Floridia, G;Chiurazzi, P;Zollino, M;
1995

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.
Inglese
Genuardi, M., Bardoni, B., Floridia, G., Chiurazzi, P., Scarano, G., Zollino, M., Garcea, N., Martinineri, M., Neri, G., DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL, <<CLINICAL GENETICS>>, 1995; 47 (1): 38-41 [https://hdl.handle.net/10807/219932]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/219932
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