title: Association of Turner's syndrome and Swyer's syndrome in the same family.
abstract: 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.
authors.affiliation: División Endocrinología, Hospital de Niños Ricardo Gutierrez, Buenos Aires, Argentina. copelli@fend.guti.sld.ar
authors.forename: S B
authors.initials: SB
authors.lastname: Copelli
authors.forename: T
authors.initials: T
authors.lastname: Pasqualini
mesh_terms: D000328:Adult; D002648:Child; D007446:Chromosome Inversion; D005190:Family; D005260:Female; D005838:Genotype; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006801:Humans; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000235:genetics*