Characterization of a 8q21

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Characterization of a 8q21 Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype María Palomares, Alicia Delicado, Elena Mansilla, María Luisa de Torres, Elena Vallespín, Luis Fernandez, Victor Martinez-Glez, Sixto García-Miñaur, Julián Nevado, Fernando Santos Simarro, Victor L. Ruiz-Perez, Sally Ann Lynch, Freddie H. Sharkey, Ann-Charlotte Thuresson, Göran Annerén, Elga F. Belligni, María Luisa Martínez-Fernández, Eva Bermejo, Beata Nowakowska, Anna Kutkowska- Kazmierczak, Ewa Bocian, Ewa Obersztyn, María Luisa Martínez-Frías, Raoul C.M. Hennekam, Pablo Lapunzina The American Journal of Human Genetics Volume 89, Issue 2, Pages 295-301 (August 2011) DOI: 10.1016/j.ajhg.2011.06.012 Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 1 Facial Views of Individuals Included in the Present Study (A) Individual 1 at age 4 (left) and 7 years (right). (B) Individual 3 at age 1 month (left) and 6 years (middle and right). (C) Individual 2 at age 6 months. (D) Individual 4 at age 17 years (left and right). (E) Individual 5 at age 12 years (left and right). (F) Individual 6 at age 20 months (left) and 9 years (right). (G) Individual 7 at age 15 years (left and right) and (H) individual 8 at age 3 years. The American Journal of Human Genetics 2011 89, 295-301DOI: (10.1016/j.ajhg.2011.06.012) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 2 Graphical Representation of the Deletions in All Individuals and Genes within the Minimal Region of Overlap The minimal region of overlap shown includes hg 19, chromosome 8: 77226464-77766239. The American Journal of Human Genetics 2011 89, 295-301DOI: (10.1016/j.ajhg.2011.06.012) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 3 FISH Confirmation of the Heterozygous Deletion of 8q21 in Individuals Individuals 1 (A), 2 (B), and 3 (C) are shown with BAC probe RP11-48D4 mapping to 8q21.11 (red). The American Journal of Human Genetics 2011 89, 295-301DOI: (10.1016/j.ajhg.2011.06.012) Copyright © 2011 The American Society of Human Genetics Terms and Conditions