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Article

Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2015

Favier Remi, Akshoomoff Natacha, Mattson Sarah, Grossfeld Paul

Abstract excerpt

In 1973, the Danish geneticist Petrea Jacobsen described a three-generation family in which the proband carried a presumed terminal deletion at the end of the long arm of chromosome 11 (11q). This patient had dysmorphic features, congenital heart disease, and intellectual disability. Since Dr. Jacobsen's initial report, over 200 patients with Jacobsen syndrome have been reported, suggesting that Jacobsen syndrome...

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Identifiers

PMID: 26285164
DOI: 10.1002/ajmg.c.31448

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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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Research trail→

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Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.PMID 26285164Read ↗

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Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor.Semantic proximity Read ↗

The 11q terminal deletion disorder: a prospective study of 110 cases.Semantic proximity Read ↗

Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy.Semantic proximity Read ↗

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Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.Semantic proximity Read ↗

Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice.Semantic proximity Read ↗

Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q.Semantic proximity Read ↗

[Prenatal diagnosis of a case with combined Wolf-Hirschhorn syndrome and Jacobsen syndrome].Semantic proximity Read ↗

Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen SyndromeSemantic proximity Read ↗

Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.Semantic proximity Read ↗

Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization.Semantic proximity Read ↗

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