Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother.

Endocrine journal - 1 Jun 1994

Tsutsumi O, Iida T, Taketani Y, Sugase M, Nakahori Y, Nakagome Y

Abstract excerpt

A patient with an apparently normal 46, XY karyotype, suffering from pure gonadal dysgenesis and of short stature was investigated. The patient, who was growth retarded, was a 30-year-old married Japanese woman with a history of primary amenorrhea and infertility with a weight of 42 kg and a height of 146 cm. She has a phenotypically and karyotypically normal dizygotic twin brother with normal development....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence
Share to Body Height
Share to Karyotyping

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Phenotype

Share to Sex Determination Analysis

Share to Twins, Dizygotic

Share to Y Chromosome

Source

Identifiers

PMID: 7951580
DOI: 10.1507/endocrj.41.281

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

Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother.PMID 7951580Read ↗

Analysis of the testis-determining gene SRY in patients with XY gonadal dysgenesis.Semantic proximity Read ↗

The role of SRY in mammalian sex determination.Semantic proximity Read ↗

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.Semantic proximity Read ↗

Testis-determining factor and Y-linked sex reversal.Semantic proximity Read ↗

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

A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis.Semantic proximity Read ↗

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.Semantic proximity Read ↗

A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.Semantic proximity Read ↗

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

Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formationSemantic proximity Read ↗

Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female.Semantic proximity Read ↗

Monozygotic twins of opposite sex.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.