title: Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome.
abstract: Individuals with deletions of chromosome 5q12-13 have rarely been reported and have a range of phenotypes including postnatal growth restriction, intellectual disability, hyperactivity, and ocular abnormalities. Most individuals reported have large deletions or complex rearrangements which have made identifying genes responsible for these phenotypes challenging. Here we report an individual with a chromosome 5q12-13 deletion with intellectual disability, hyperactivity and restricted linear growth. Based on the location of our patient's deletion in relation to the previously reported deletions, we have narrowed the locus for postnatal growth restriction to less than 1 megabase. Further refinement of this locus with reports of additional individuals with deletions of this region will allow for better understanding of the gene(s) responsible for this phenotype.
authors.affiliation: Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas.
authors.forename: J Lloyd
authors.initials: JL
authors.lastname: Holder
authors.affiliation: Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Sau-Wai
authors.initials: SW
authors.lastname: Cheung
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D056426:Genetic Loci; D048788:Growth and Development / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype
keywords: attention deficit hyperactivity disorder; chromosome 5q; growth retardation; intellectual disability, speech delay; partial deletion