An X;X chromosomal translocation was ascertained by conventional cytogenetic analysis in a phenotypically normal woman with secondary amenorrhea. In situ hybridization was performed with previously mapped X-specific DNA sequences to study the rearrangement at the molecular level. The results allowed us to demonstrate that the subject is monosomic for the distal region of the short arm of the X and trisomic for the distal region of the long arm.

Characterization of an X;X translocation by cytological analysis and in situ hybridization.

RAIMONDI, ELENA MARIA;BENSI, MIRELLA;
1989-01-01

Abstract

An X;X chromosomal translocation was ascertained by conventional cytogenetic analysis in a phenotypically normal woman with secondary amenorrhea. In situ hybridization was performed with previously mapped X-specific DNA sequences to study the rearrangement at the molecular level. The results allowed us to demonstrate that the subject is monosomic for the distal region of the short arm of the X and trisomic for the distal region of the long arm.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/433225
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