Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.
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.
Doco-Fenzy
Martine
M
Service de génétique, IFR53, UFR de médecine, CHRU de Reims, France. mdocofenzy@chu-reims.fr
Landais
Emilie
E
Andrieux
Joris
J
Schneider
Anouck
A
Delemer
Brigitte
B
Sulmont
Véronique
V
Melin
Jean-Pierre
JP
Ploton
Dominique
D
Thevenard
Jessica
J
Monboisse
Jean-Claude
JC
Belouadah
Mohamed
M
Lefebvre
Francis
F
Durlach
Anne
A
Goossens
Michel
M
Albuisson
Juliette
J
Motte
Jacques
J
Gaillard
Dominique
D
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