ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency Maurilia Fiorini, PhD, Giovanna Piovani, PhD, Richard.

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ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency Maurilia Fiorini, PhD, Giovanna Piovani, PhD, Richard F. Schumacher, MD, Chiara Magri, PhD, Valeria Bertini, Evelina Mazzolari, MD, Lucia Notarangelo, MD, Luigi D. Notarangelo, MD, Sergio Barlati, PhD Journal of Allergy and Clinical Immunology Volume 124, Issue 6, Pages 1356-1358 (December 2009) DOI: 10.1016/j.jaci.2009.07.058 Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Chromatograms of portion of ITGB2 gene sequence in the proband and his parents. The c.79A > T mutation is marked by an arrow. Note that for the mutated position, the father, the mother, and the affected son showed the AA, AT, and TT genotypes, respectively. Journal of Allergy and Clinical Immunology 2009 124, 1356-1358DOI: (10.1016/j.jaci.2009.07.058) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 Cytogenetic and single nucleotide polymorphism array analyses. A, Patient's Q-banding (arrow). B, FISH painting of chromosome 21 shows signal on 2 chromosomes, including the ring chromosome (arrow). C, FISH using BAC clone RP11-15F6 reveals lack of signal on 1 of the 2 chromosomes 21 (arrow). D, Copy number state of chromosome 21 probes inferred by CNAG and reported as logarithm to the base 2 of the intensity ratio between proband and controls set. The arrow points to the deleted region. Journal of Allergy and Clinical Immunology 2009 124, 1356-1358DOI: (10.1016/j.jaci.2009.07.058) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions