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

Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report.

European journal of medical genetics - 1 Jan 2000

Velissariou V, Christopoulou S, Karadimas C, Pihos I, Kanaka-Gantenbein C, Kapranos N, Kallipolitis G, Hatzaki A

Abstract excerpt

Klinefelter syndrome represents the most commonly found human sex chromosomal abnormality. It is characterized by small, firm testes with hyalinization of the seminiferous tubules, elevated gonadotropins and azoospermia. Males with Klinefelter syndrome may have a 47,XXY or a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. Mosaicism 47,XXY/46,XX with clinical features...

Read the complete abstract on PubMed

Topics

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

Share to Klinefelter Syndrome
Share to Mosaicism

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

Share to Phenotype

Source

Identifiers

PMID: 16829354
DOI: 10.1016/j.ejmg.2005.09.001

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

Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report.PMID 16829354Read ↗

Infertility and multiple urogenital abnormalities in a male with mosaic 46,XY/45,XO/47,XXY karyotype and mixed phenotype.Semantic proximity Read ↗

A case report of rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome and mediastinal germ cell tumor.Semantic proximity Read ↗

A multicenter analysis of individuals with a 47,XXY/46,XX karyotype.Semantic proximity Read ↗

Discordant sex in monozygotic XXY/XX twins: a case report.Semantic proximity Read ↗

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study.Semantic proximity Read ↗

Hidden mosaicism in patients with Klinefelter's syndrome: implications for genetic reproductive counsellingSemantic proximity Read ↗

A patient with 46,XY/47,XYY karyotype and female phenotype: a case report.Semantic proximity Read ↗

Phenotypic and Fertility Variability in Klinefelter Syndrome: Evidence of Natural Fatherhood in Non-Mosaic 47,XXY Men and Rare 48,XXYY CasesSemantic proximity Read ↗

Clinical aspects of 49 infertile males with 45,X/46,XY mosaicism karyotype: A case series.Semantic proximity Read ↗

Can Individuals with 47,XYY Karyotypes Exist without Male Phenotype? A Narrative Literature Review and Case Report.Semantic proximity Read ↗

Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and reviewSemantic proximity Read ↗

Assisted reproductive treatment applications in men with normal phenotype but 45,X/46,XY mosaic karyotype: clinical and genetic perspectives.Semantic proximity Read ↗

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