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Article

The 11q terminal deletion disorder: a prospective study of 110 cases.

American journal of medical genetics. Part A - 15 Aug 2004

Grossfeld Paul D, Mattina Teresa, Lai Zona, Favier Remi, Jones Ken Lyons, Cotter Finbarr, Jones Christopher

Abstract excerpt

We performed a prospective study of 110 patients (75 not previously published) with the 11q terminal deletion disorder (previously called Jacobsen syndrome), diagnosed by karyotype. All the patients have multiple dysmorphic features. Nearly all the patients (94%) have Paris-Trousseau syndrome characterized by thrombocytopenia and platelet dysfunction. In total, 56% of the patients have serious congenital heart...

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Identifiers

PMID: 15266616
DOI: 10.1002/ajmg.a.30090

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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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