title: 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.
abstract: 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.
authors.affiliation: Laboratorio di Citogenetica, Istituto G. Gaslini, Genova, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Tassano
authors.forename: Alessandra
authors.initials: A
authors.lastname: Gamucci
authors.forename: Maria E
authors.initials: ME
authors.lastname: Celle
authors.forename: Patrizia
authors.initials: P
authors.lastname: Ronchetto
authors.forename: Cristina
authors.initials: C
authors.lastname: Cuoco
authors.forename: Giorgio
authors.initials: G
authors.lastname: Gimelli
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D059785:Karyotype; D007805:Language Development Disorders / Q000175:diagnosis* / Q000235:genetics; D008297:Male