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


  • Mircea Adam, Francesco Bertoni, Ursula Bellugi, Christine Bradshaw, Ju Chen, Marie Dell'Aquila, William Elias, Mary Haghi, Hal Hoffman, Yvette Jockin, Ken Lee Jones, Marilyn Jones, Wendy Jones, Joel Lavine, Pilar Ruiz-Lozano, Anthony Magit, Peter Newton, William Nyhan, Darren Oakley, Harry O'Halloran, Abraham Rothman, Colin Scher, Alan Tunnacliffe, and Angelica Zingale.


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 defects. Cognitive function ranged from normal intelligence to moderate mental retardation. Nearly half of the patients have mild mental retardation with a characteristic neuropsychiatric profile demonstrating near normal receptive language ability, but mild to moderate impairment in expressive language. Ophthalmologic, gastrointestinal, and genitourinary problems were common, as were gross and fine motor delays. Infections of the upper respiratory system were common, but no life-threatening infections were reported. We include a molecular analysis of the deletion breakpoints in 65 patients, from which genetic “critical regions” for 14 clinical phenotypes are defined, as well as for the neuropsychiatric profiles. Based on these findings, we provide a comprehensive set of recommendations for the clinical management of patients with the 11q terminal deletion disorder. © 2004 Wiley-Liss, Inc.