Please use this identifier to cite or link to this item:
http://hdl.handle.net/20.500.12188/11558
DC Field | Value | Language |
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dc.contributor.author | Kocova, M | en_US |
dc.contributor.author | Siegel, S F | en_US |
dc.contributor.author | Wenger, S L | en_US |
dc.contributor.author | Lee, P A | en_US |
dc.contributor.author | Trucco, M | en_US |
dc.date.accessioned | 2021-03-25T11:10:16Z | - |
dc.date.available | 2021-03-25T11:10:16Z | - |
dc.date.issued | 1993-07-17 | - |
dc.identifier.issn | 0140-6736 | - |
dc.identifier.uri | http://hdl.handle.net/20.500.12188/11558 | - |
dc.description.abstract | Only about half of all patients with Turner's syndrome are monosomy 45,X on karyotyping and there are grounds for supposing that cryptic mosaicism for at least part of the Y chromosome may be present in some patients. If so this would be clinically important because of the risk to patients of gonadal neoplasms and virilisation. We have used a very sensitive method to detect Y chromosomal segments in eighteen patients with Turner's syndrome, none of whom had evidence of Y chromosomal material by cytogenetic analysis. In DNA from peripheral blood lymphocytes and/or fibroblasts we looked for specific nucleotide sequences from the sex-determining region of the Y chromosome (SRY gene) and repetitive sequences located at the centromeric region (DYZ3). By polymerase chain amplification (PCR) one patient had a definite positive signal and two patients had faintly positive signals for the SRY gene. Southern blot analysis of PCR material with a SRY-specific probe confirmed that these patients were positive for SRY and revealed another three. No patient was positive for DYZ3, suggesting that only a small portion of Y was present. These results suggest that "pure" 45,X monosomy is less frequent than previously supposed. Long-term follow-up of patients with Y sequences is needed to determine their risk for subsequent gonadal neoplasms and virilisation. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Elsevier BV | en_US |
dc.relation.ispartof | The Lancet | en_US |
dc.title | Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1016/0140-6736(93)91345-m | - |
dc.identifier.url | https://api.elsevier.com/content/article/PII:014067369391345M?httpAccept=text/xml | - |
dc.identifier.url | https://api.elsevier.com/content/article/PII:014067369391345M?httpAccept=text/plain | - |
dc.identifier.volume | 342 | - |
dc.identifier.issue | 8864 | - |
dc.identifier.fpage | 140 | - |
dc.identifier.lpage | 143 | - |
item.fulltext | No Fulltext | - |
item.grantfulltext | none | - |
crisitem.author.dept | Faculty of Medicine | - |
Appears in Collections: | Faculty of Medicine: Journal Articles |
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