title: Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.
abstract: We report on a patient with a 1.2 Mb 19p13.12-p13.13 deletion. Compared to previously reported individuals with partially overlapping deletions, the propositus presented with a less severe phenotype, consisting of mild intellectual disability and behavior anomalies, with episodes of simple febrile seizures and without significant physical anomalies or major malformations. The deleted region includes 29 coding genes, some of which have already been demonstrated to be involved in cognitive processes. Mutations in two of them, CC2D1A and TECR, were recently reported to be responsible for non-syndromal, autosomal recessive intellectual disability. The residual alleles of all of these genes were submitted to sequence analysis. No sequence variants were found that could be considered pathogenic. This patient constitutes a further example of the wide phenotypic variability associated with chromosomal rearrangements, likely due to the different size of deleted/duplicated segments.
authors.affiliation: Institute of Medical Genetics, Università Cattolica del Sacro Cuore, Roma, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Marangi
authors.forename: Daniela
authors.initials: D
authors.lastname: Orteschi
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.forename: Jillian
authors.initials: J
authors.lastname: Felie
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
authors.forename: M Chiara
authors.initials: MC
authors.lastname: Manzini
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D001523:Mental Disorders / Q000235:genetics; D010641:Phenotype; D003294:Seizures, Febrile / Q000235:genetics; D017422:Sequence Analysis, DNA