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

De novo structure variations of the Y chromosome in a 47,XXY female with ovarian failure: a case report.

Cytogenetic and genome research - 1 Jan 2014

Lin Bin, Tan Fengqin, Xu Heng, Wang Ping, Tang Quan, Zhu Yufei, Kong Xiangyin, Hu Landian

Abstract excerpt

We report on a patient with a 47,XXY karyotype who presents a normal female phenotype, which is an extremely rare observation worldwide. The patient is infertile. Type B ultrasound scans and other tests suggested that her ovaries had completely failed. Microsatellite DNA marker analysis revealed that the 2 X chromosomes were derived from her mother and that this abnormality was caused by non-disjunction of the...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Y
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, sry

Share to Klinefelter Syndrome

Share to Molecular Diagnostic Techniques

Share to Pedigree

Share to Polymorphism, Single Nucleotide

Share to Primary Ovarian Insufficiency

Source

Identifiers

PMID: 25227289
DOI: 10.1159/000366170

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo structure variations of the Y chromosome in a 47,XXY female with ovarian failure: a case report.PMID 25227289Read ↗

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

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

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

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.Semantic proximity Read ↗

Normal female phenotype and ovarian development despite the ovarian expression of the sex-determining region of Y chromosome (SRY) in a 46,XX/69,XXY diploid/triploid mosaic child conceived after in vitro fertilization-intracytoplasmic sperm injection.Semantic proximity Read ↗

46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature.Semantic proximity Read ↗

Three new 46,XX male patients: a clinical, cytogenetic and molecular analysis.Semantic proximity Read ↗

Molecular and Clinical Characteristics of 26 Cases with Structural Y Chromosome AberrationsSemantic 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 ↗

46,XX sex reversal.Semantic proximity Read ↗

Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletionsSemantic proximity Read ↗

Cytogenetic analysis of 179 Iranian women with premature ovarian failure.Semantic proximity Read ↗

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