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

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

American journal of human genetics - 1 Jun 1991

Wang J C, Passage M B, Yen P H, Shapiro L J, Mohandas T K

Abstract excerpt

A 9-year-old mentally retarded girl with multiple congenital anomalies was found to carry a balanced 13/14 Robertsonian translocation [45,XX,t(13q14q)] which was also present in her father. Her mother carried a balanced reciprocal translocation between chromosomes 1 and 14 [46,XX,t(1;14) (q32;q32)]. Both of her parents were phenotypically normal. Molecular studies were carried out to determine the parental origin...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Southern
Share to Child
Share to Chromosome Aberrations

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

Share to DNA Probes

Share to Heterozygote

Share to Karyotyping

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 2035528
PMCID: PMC1683099

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

Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.PMID 2035528Read ↗

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 for chromosome 14.Semantic proximity Read ↗

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

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

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

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

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

Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimateSemantic proximity Read ↗

Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype.Semantic proximity Read ↗

Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy.Semantic proximity Read ↗

Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus.Semantic proximity Read ↗

Distinct phenotype in maternal uniparental disomy of chromosome 14.Semantic proximity Read ↗

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