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Article

Detection of SRY in 45,X/47,XYY mosaicism leading to phenotypic female.

Clinical genetics - 1 Feb 1997

Imai A, Horibe S, Fuseya T, Takagi H, Takagi A, Tamaya T

Abstract excerpt

SRY on the Y chromosome initiates male sex determination. We tested a phenotypic female with sex chromosome mosaicism, X/XYY, for SRY expression. SRY was determined by polymerase chain reaction (PCR) amplification in genomic DNA from a female patient with a sex chromosome mosaic complement, 45,X/47,XYY, followed by sequencing analyses. The patient yielded the PCR product with predicted size and homology to the...

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Source

Identifiers

PMID: 9112002
DOI: 10.1111/j.1399-0004.1997.tb02434.x

Genes

SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of SRY in 45,X/47,XYY mosaicism leading to phenotypic female.PMID 9112002Read ↗

A novel sex-determining region on Y (SRY) nonsense mutation identified in a 45,X/47,XYY female.Semantic proximity Read ↗

Mutational analysis of SRY in XY females.Semantic proximity Read ↗

Detection of SRY in a 46,XY female (Swyer's syndrome).Semantic proximity Read ↗

46,XX sex reversal.Semantic proximity Read ↗

Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis.Semantic proximity Read ↗

47,XYY karyotype and normal SRY in a patient with a female phenotype.Semantic proximity Read ↗

Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.Semantic proximity Read ↗

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.Semantic proximity Read ↗

The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.Semantic proximity Read ↗

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.Semantic proximity Read ↗

Identification of an SRY-Negative 46,XX Infertility Male with a Heterozygous Deletion Downstream of SOX3 GeneSemantic proximity Read ↗

Analysis of the SRY gene in a girl with 45,X/46,XY genotype.Semantic proximity Read ↗

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