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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...

Topics

Adult
Amniocentesis
Chromosomes, Human, Pair 18
DNA
Female
Follow-Up Studies
Humans
Karyotyping
Multigene Family
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1789286
DOI: 10.1002/ajmg.1320410311

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1789286-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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