title: Fluorescent in-situ hybridization and sequence-tagged sites for delineation of an X:Y translocation in a patient with secondary amenorrhoea.
abstract: We describe a phenotypically normal female with secondary amenorrhoea due to a translocation of genetic material involving the long arm of chromosome X (Xq28) and the long arm of chromosome Y (Yq11). We used fluorescent in situ hybridization to localize the breakpoint on the Xq. The Y chromosome breakpoint was identified using polymerase chain reaction (PCR) detection of sequence-tagged sites (STS) specific for interval 5 at Yq11.21. The relationship between this X:Y translocation and premature ovarian failure is discussed.
authors.affiliation: Cytogénétique et FIV, LMM. Mérieux Foundation, Lyon, France.
authors.forename: B
authors.initials: B
authors.lastname: Delon
authors.forename: H
authors.initials: H
authors.lastname: Lallaoui
authors.forename: C
authors.initials: C
authors.lastname: Abel-Lablanche
authors.forename: A
authors.initials: A
authors.lastname: Geneix
authors.forename: V
authors.initials: V
authors.lastname: Bellec
authors.forename: M
authors.initials: M
authors.lastname: Benkhalifa
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D002871:Chromosome Banding; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010641:Phenotype; D016133:Polymerase Chain Reaction; D016324:Sequence Tagged Sites; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D004247:DNA