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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Bibliographic Details
Published inJournal of Pediatric Endocrinology and Metabolism Vol. 13; no. 5; pp. 557 - 560
Main Authors Copelli, S.B., Pasqualini, T.
Format Journal Article
LanguageEnglish
Published Germany De Gruyter 01.05.2000
Subjects
Adult
Child
Chromosome Inversion
Family
Female
Genotype
Gonadal Dysgenesis, 46,XY - genetics
Humans
Male
Mosaicism
Phenotype
Polymerase Chain Reaction
Sex Chromosomes
Turner Syndrome - genetics
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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.
Bibliography:jpem.2000.13.5.557.pdf
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ArticleID:JPEM.2000.13.5.557
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ISSN:0334-018X
2191-0251
DOI:10.1515/JPEM.2000.13.5.557