title: 17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.
abstract: We report on the diagnosis of a 17p13.1 deletion in a 10-year-old boy. The patient presented with mild developmental delay, facial dysmorphism, joint hyperlaxity, pes planus, hypermetropia, hearing loss, and achromic patches following the Blaschko's lines on the right part of the thorax. Chromosome R-banding was normal. Array CGH using a 244 K oligonucleotide array showed a homogeneous de novo 17p13.1 microdeletion of 400 kb involving TP53 and 25 other genes, including genes involved in brain function (EFNB3, FXR2). To our knowledge, six patients presenting with a constitutional 17p13.1 microdeletion involving the TP53 gene have been reported. We discuss the phenotype of this microdeletion and the genetic counseling issues, especially regarding the risk of cancer associated with the deletion of the TP53 gene.
authors.affiliation: Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, CBPE, Lyon, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Schluth-Bolard
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
authors.forename: Audrey
authors.initials: A
authors.lastname: Labalme
authors.forename: Marianne
authors.initials: M
authors.lastname: Till
authors.forename: Isabelle
authors.initials: I
authors.lastname: Morin
authors.forename: Renaud
authors.initials: R
authors.lastname: Touraine
authors.forename: Patrick
authors.initials: P
authors.lastname: Edery
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009369:Neoplasms / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D016159:Tumor Suppressor Protein p53