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Article

Association of Turner's syndrome and Swyer's syndrome in the same family.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2000

Copelli S B, Pasqualini T

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10803875
DOI: 10.1515/jpem.2000.13.5.557

Genes

SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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