European journal of medical genetics · 2008
Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Doco-Fenzy Martine, Landais Emilie, Andrieux Joris, Schneider Anouck, Delemer Brigitte, Sulmont Véronique, Melin Jean-Pierre, Ploton Dominique, Thevenard Jessica, Monboisse Jean-Claude, Belouadah Mohamed, Lefebvre Francis, Durlach Anne, Goossens Michel, Albuisson Juliette, Motte Jacques, Gaillard Dominique
Аннотация
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.