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Article

Absence of predictable phenotypic expression in proximal 15q duplications.

Clinical genetics - 1 Sept 1991

Ludowese C J, Thompson K J, Sekhon G S, Pauli R M

Abstract excerpt

We describe ten individuals with an insertional duplication 15q12----q13. Phenotypic analysis of these individuals and 15 previously reported cases of proximal 15q duplications fails to show any consistent clinical manifestations. It appears that a duplication of this region is phenotypically silent.

Topics

Adult
Chromosomes, Human, Pair 15
Female
Humans
Infant, Newborn
Karyotyping
Male
Middle Aged
Multigene Family
Mutagenesis, Insertional
Phenotype
Prader-Willi Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1773534
DOI: 10.1111/j.1399-0004.1991.tb03076.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1773534-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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