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

The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Jan 2023

Oroz Maja, Vičić Ana, Požgaj Šepec Marija, Karnaš Helena, Stipančić Gordana, Stipoljev Feodora

Abstract excerpt

OBJECTIVES: Approximately 90% of "XX males" are positive for SRY. However, there are isolated cases of sex reversal associated to other genes in male-determining pathway. CASE PRESENTATION: We describe a 1.3-old patient with 46,XX karyotype, male phenotypic gender and cryptorchidism. Microarray analysis revealed a de novo 273 kb duplication in the Xq27.1 region that contains SOX3. FISH with probe specific to SOX3...

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 Phenotype

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

Share to Sex Chromosome Aberrations

Share to SOXB1 Transcription Factors

Source

Identifiers

PMID: 36189645
DOI: 10.1515/jpem-2022-0324

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

The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype.PMID 36189645Read ↗

Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literatureSemantic proximity Read ↗

A rare case of 46, XX SRY-negative male with a ∼74-kb duplication in a region upstream of SOX9Semantic proximity Read ↗

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

SOX3 duplication in a boy with 46, XX ovotesticular disorder of sex development and his 46, XX sister with atypical genitalia: Probable germline mosaicismSemantic proximity Read ↗

[Exploration of the pathogenesis for a SRY-negative male with 46,XX disorder of sex development].Semantic proximity Read ↗

[Clinical and genetic analysis of a child with 46,XX male phenotype due to SOX3 gene duplication].Semantic proximity Read ↗

SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation.Semantic proximity Read ↗

Autosomal XX sex reversal caused by duplication of SOX9.Semantic proximity Read ↗

The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature ReviewSemantic proximity Read ↗

Intragenic Duplication of DMRT1 in a SRY-Negative Boy with 46,XX Disorder of Sex DevelopmentSemantic proximity Read ↗

De novo 12;17 translocation upstream of <i>SOX9</i> resulting in 46,XX testicular disorder of sex developmentSemantic proximity Read ↗

A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.Semantic proximity Read ↗

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