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Article

Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells.

American journal of human genetics - 1 Jul 2005

McDaniel Lisa D, Tomkins Darrell J, Stanbridge Eric J, Somerville Martin J, Friedberg Errol C, Schultz Roger A

Abstract excerpt

Roberts syndrome (RS) is a developmental disorder characterized by tetraphocomelia and a broad spectrum of additional clinical features. Most patients with RS exhibit characteristic cytogenetic phenotypes, which include an abnormal appearance of pericentromeric heterochromatin on metaphase chromosomes, referred to as "heterochromatic repulsion." In the present study, we use complementation of this abnormal...

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Identifiers

PMID: 15887093
DOI: 10.1086/431328
PMCID: PMC1226185

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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.

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