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 disomy 22 has no impact on the phenotype.

American journal of human genetics - 1 Jan 1994

Schinzel A A, Basaran S, Bernasconi F, Karaman B, Yüksel-Apak M, Robinson W P

Abstract excerpt

A 25-year-old normal healthy male was karyotyped because five of his wife's pregnancies terminated in spontaneous abortions at 6-14 wk of gestation. Cytogenetic investigation disclosed a de novo balanced Robertsonian t(22q;22q) translocation. Molecular studies revealed maternal only inheritance for chromosome 22 markers. Reduction to homozygosity for all informative markers indicates that the rearranged...

Read the complete abstract on PubMed

Topics

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

Share to Abortion, Spontaneous
Share to Aneuploidy
Share to Chromosomes, Human, Pair 22

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

Share to Karyotyping

Share to Pedigree

Share to Phenotype

Share to Pregnancy

Share to Translocation, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 8279466
PMCID: PMC1918072

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

Maternal uniparental disomy 22 has no impact on the phenotype.PMID 8279466Read ↗

Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)Semantic proximity Read ↗

Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta.Semantic proximity Read ↗

Unexpected fertility and paternal UPD 22.Semantic proximity Read ↗

Maternal Uniparental Disomy of Chromosome 1 with No Apparent Phenotypic EffectsSemantic proximity Read ↗

Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q).Semantic proximity Read ↗

Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.Semantic proximity Read ↗

Possible isochromosome 22 leading to trisomy 22.Semantic proximity Read ↗

Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22.Semantic proximity Read ↗

Extra small marker chromosome associated with normal phenotype due to 3:1 disjunction of t(14;22) in a parent. Implications for the origin of marker chromosomes.Semantic proximity Read ↗

Maternal uniparental disomy of chromosome 21 in a normal child.Semantic proximity Read ↗

No evidence for genomic imprinting in liveborn Down syndrome patients.Semantic proximity Read ↗

[The absence of uniparental X-chromosome inheritance in spontaneous abortuses with a 46,XX karyotype].Semantic proximity Read ↗

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