Association of Turner's Syndrome and Swyer's Syndrome in the Same Family
We report two phenotypically and genetically different diseases in the same family. One patient presented with Turner phenotype as a result of chromosomal mosaicism 45,X/46,X, inv(X)(q21;q24) (30%/70%). Her father's sister showed 46,XY female gonadal dysgenesis (Swyer's syndrome) as a resu...
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Published in | Journal of Pediatric Endocrinology and Metabolism Vol. 13; no. 5; pp. 557 - 560 |
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Main Authors | , |
Format | Journal Article |
Language | English |
Published |
Germany
De Gruyter
01.05.2000
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Subjects | |
Online Access | Get full text |
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Summary: | We report two phenotypically and genetically different diseases in the same family. One patient presented with Turner phenotype as a result of chromosomal mosaicism 45,X/46,X, inv(X)(q21;q24) (30%/70%). Her father's sister showed 46,XY female gonadal dysgenesis (Swyer's syndrome) as a result of a point mutation in the SRY gene on her Y chromosome. DNA sequencing revealed a G-->C transversion (nucleotide position 693) resulting in a change from glycine95 to arginine (G95R). Here we report for the first time an association of Turner's syndrome and Swyer's syndrome in the same family. |
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Bibliography: | jpem.2000.13.5.557.pdf istex:A0EEC79ECDB05451AF7E7ADAA8AB652019E17263 ark:/67375/QT4-7BR3RN75-K ArticleID:JPEM.2000.13.5.557 ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 0334-018X 2191-0251 |
DOI: | 10.1515/JPEM.2000.13.5.557 |