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

Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty.

European journal of human genetics : EJHG - 1 Jan 1996

Tomkins D J, Roux A F, Waye J, Freeman V C, Cox D W, Whelan D T

Abstract excerpt

Cytogenetic and molecular investigation of a boy with precocious puberty and motor developmental delay revealed a 45,XY,t(14q14q) or i(14q) karyotype with no paternal chromosome 14 contribution. VNTR analysis of loci on four other chromosomes excluded non-paternity with greater than 99% confidence. Results of VNTR and CA repeat analyses of ten loci along the entire length of chromosome 14 were consistent with...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Blotting, Southern

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 13

Share to Genomic Imprinting

Share to Genotype

Share to Karyotyping

Share to Minisatellite Repeats

Share to Translocation, Genetic

Source

Identifiers

PMID: 8840115
DOI: 10.1159/000472189

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty.PMID 8840115Read ↗

Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.Semantic proximity Read ↗

Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty.Semantic proximity Read ↗

Maternal uniparental disomy for chromosome 14.Semantic proximity Read ↗

Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult.Semantic proximity Read ↗

Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype.Semantic proximity Read ↗

Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation.Semantic proximity Read ↗

Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting.Semantic proximity Read ↗

Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting.Semantic proximity Read ↗

Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.Semantic proximity Read ↗

Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow upSemantic proximity Read ↗

A case of segmental paternal isodisomy of chromosome 14.Semantic proximity Read ↗

Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletionSemantic proximity Read ↗

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