Fluorescent in-situ hybridization and sequence-tagged sites for delineation of an X:Y translocation in a patient with secondary amenorrhoea | Zendy

B Delon | Zendy

Open Access

Fluorescent in-situ hybridization and sequence-tagged sites for delineation of an X:Y translocation in a patient with secondary amenorrhoea

Author(s) -

B Delon

Publication year - 1997

Publication title -

molecular human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.143

H-Index - 122

eISSN - 1460-2407

pISSN - 1360-9947

DOI - 10.1093/molehr/3.5.439

Subject(s) - biology , chromosomal translocation , breakpoint , fluorescence in situ hybridization , xq28 , y chromosome , in situ hybridization , microbiology and biotechnology , karyotype , chromosome , in situ , genetics , sequence (biology) , sequence tagged site , fluorescence , x chromosome , gene mapping , gene , messenger rna , physics , meteorology , quantum mechanics

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.

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