TY - DATA T1 - Supplementary Material for: Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment PY - 2015/06/19 AU - Tassano E. AU - Gamucci A. AU - Celle M.E. AU - Ronchetto P. AU - Cuoco C. AU - Gimelli G. UR - https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Clinical_and_Molecular_Cytogenetic_Characterization_of_a_de_novo_Interstitial_1p31_1p31_3_Deletion_in_a_Boy_with_Moderate_Intellectual_Disability_and_Severe_Language_Impairment/5128240 DO - 10.6084/m9.figshare.5128240.v1 L4 - https://ndownloader.figshare.com/files/8716324 KW - Deletion 1p31.1p31.3 KW - Intellectual disability KW - Severe language impairment N2 - Interstitial 1p deletions are rare events. Very few cases of 1p31.1p31.3 deletions characterized by variable phenotypes have been reported. No clear genotype-phenotype correlation has been determined yet. We present a child with a de novo interstitial 1p31.1p31.3 deletion, identified by array CGH, associated with intellectual disability and severe language impairment. The deleted region contains 20 OMIM genes, but we focused on GADD45A (MIM 126335; growth arrest- and DNA damage-inducible gene), LRRC7 (MIM 614453; leucine-rich repeat-containing protein 7), and NEGR1 (MIM 613173; neuronal growth regulator 1). We discuss whether these genes play a role in determining the phenotype of our patient in order to investigate the possibility of a genotype-phenotype correlation. ER -