title: Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.
abstract: Interstitial 2q36 deletion is a rare event. We report on a patient with a de novo del(2)(q36.2q36.3) interstitial deletion of the long arm of chromosome 2 diagnosed by classical banding. The phenotype comprised facial dysmorphism, enlarged kidneys with multiple renal cysts, abnormal minora labia, asymmetric lower limbs with dysplastic patella, and severe mental retardation. By physical mapping, using array-comparative genomic hybridisation (CGH) confirmed by Fluorescent In Situ Hybridisation (FISH), the breakpoints of the deletion were mapped and the size of the deletions was measured: 5.61+/-0.19Mb. A skin biopsy was analysed using electronic microscopy showing an alteration of the structure and organisation of the dermal and peri-neuronal basement membrane. The relation between the phenotype and the deletion of both COL4A4 and COL4A3 genes, located in 2q36.3 loci, as well as the disruption of TRIP12 were discussed.
authors.affiliation: Service de génétique, IFR53, UFR de médecine, CHRU de Reims, France. mdocofenzy@chu-reims.fr
authors.forename: Martine
authors.initials: M
authors.lastname: Doco-Fenzy
authors.forename: Emilie
authors.initials: E
authors.lastname: Landais
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Anouck
authors.initials: A
authors.lastname: Schneider
authors.forename: Brigitte
authors.initials: B
authors.lastname: Delemer
authors.forename: Véronique
authors.initials: V
authors.lastname: Sulmont
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Melin
authors.forename: Dominique
authors.initials: D
authors.lastname: Ploton
authors.forename: Jessica
authors.initials: J
authors.lastname: Thevenard
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Monboisse
authors.forename: Mohamed
authors.initials: M
authors.lastname: Belouadah
authors.forename: Francis
authors.initials: F
authors.lastname: Lefebvre
authors.forename: Anne
authors.initials: A
authors.lastname: Durlach
authors.forename: Michel
authors.initials: M
authors.lastname: Goossens
authors.forename: Juliette
authors.initials: J
authors.lastname: Albuisson
authors.forename: Jacques
authors.initials: J
authors.lastname: Motte
authors.forename: Dominique
authors.initials: D
authors.lastname: Gaillard
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D003560:Cysts / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D007674:Kidney Diseases / Q000235:genetics*; D009693:Nucleic Acid Hybridization