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

Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype.

American journal of medical genetics - 1 Dec 1991

Wolff D J, Raffel L J, Ferré M M, Schwartz S

Abstract excerpt

Direct two-generation transmission of an unbalanced 18p+ chromosome was discovered after amniocentesis. Neither the mother nor the child exhibited apparent physical malformations or mental impairment. Banding analysis suggested a complete 18p duplication. Molecular studies verified the 18p origin of the duplicated material. Only 14 previous cases of duplication 18p have been reported and these exhibited either a...

Read the complete abstract on PubMed

Topics

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

Share to Amniocentesis
Share to Chromosomes, Human, Pair 18
Share to DNA

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

Share to Follow-Up Studies

Share to Karyotyping

Share to Multigene Family

Share to Phenotype

Source

Identifiers

PMID: 1789286
DOI: 10.1002/ajmg.1320410311

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

Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype.PMID 1789286Read ↗

Prenatal Diagnosis of 18p Deletion and 8p Trisomy Syndrome: Case Report and Review of LiteratureSemantic proximity Read ↗

[Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion].Semantic proximity Read ↗

Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.Semantic proximity Read ↗

Inherited duplication of the short arm of chromosome 18p11.32–p11.31 associated with developmental delay/intellectual disabilitySemantic proximity Read ↗

Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.Semantic proximity Read ↗

Duplication 18q21.31-q22.2.Semantic proximity Read ↗

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

Molecular cytogenetic characterization of a de novo unbalanced translocation leading to trisomy 17q25-->qter and monosomy 18p11.3-->pter in a girl with dysmorphic features.Semantic proximity Read ↗

De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes.Semantic proximity Read ↗

Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion.Semantic proximity Read ↗

Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocationSemantic proximity Read ↗

Deletion of chromosome region 18q21.1 --> 18q21.3 in a patient without clinical features of the 18q- phenotype.Semantic proximity Read ↗

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