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

Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant.

Fertility and sterility - 1 Nov 2008

Höckner Martina, Pinggera Germar-Michael, Günther Barbara, Sergi Consolato, Fauth Christine, Erdel Martin, Kotzot Dieter

Abstract excerpt

OBJECTIVE: To describe the parental origin and the mechanism of formation of an 47,XY,idic(X)(p11.2) karyotype in a patient with Klinefelter syndrome. DESIGN: Case report. SETTING: A university hospital. PATIENT(S): A 36-year-old man with primary infertility. INTERVENTION(S): Genotype-phenotype correlation and microsatellite marker-mediated haplotype analysis subsequent to whole genome amplification of...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Banding
Share to Chromosome Painting

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

Share to Chromosomes, Human, Y

Share to Genotype

Share to Infertility, Male

Share to Klinefelter Syndrome

Share to Pedigree

Source

Identifiers

PMID: 18687426
DOI: 10.1016/j.fertnstert.2008.05.054

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

Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant.PMID 18687426Read ↗

Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy maleSemantic proximity Read ↗

Aberrant recombination and the origin of Klinefelter syndromeSemantic proximity Read ↗

Parental origin of apparently balanced <i>de novo</i> complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite‐mediated haplotype analysisSemantic proximity Read ↗

Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: Implications for the mechanism leading to generation of a 45,X karyotypeSemantic proximity Read ↗

Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients.Semantic proximity Read ↗

Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18Semantic proximity Read ↗

Fertility in a i(Xq) Klinefelter patient: importance of XIST expression level determined by qRT-PCR in ruling out Klinefelter cryptic mosaicism as cause of oligozoospermiaSemantic proximity Read ↗

Is the resulting phenotype of an embryo with balanced X-autosome translocation, obtained by means of preimplantation genetic diagnosis, linked to the X inactivation pattern?Semantic proximity Read ↗

Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype.Semantic proximity Read ↗

Parental origin of deletions and duplications – about the necessity to check for cryptic inversionsSemantic proximity Read ↗

Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy.Semantic proximity Read ↗

Natural history of prenatally diagnosed 46,X,isodicentric Y.Semantic proximity Read ↗

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