Definition: Microdeletion syndrome.
Synospsis
Wilms tumor predisposition
aniridia
genital malformations
urinary malformaions
renal malformations
renal anomalies
rare congenital diaphragmatic hernia (15779010, 17194330)
non-WIlms cystic tumor of the kidney (dysgenetic cysts) (17295033)
Genes involved:
WT1
References
van Heyningen V, Hoovers JM, de Kraker J, Crolla JA. Elevated risk of Wilms tumour in aniridia cases with submicroscopic WT1 deletion. J Med Genet. 2007 Jul 14;PMID: 17630404
Dahan K, Kamal M, Noel LH, Jeanpierre C, Gubler MC, Brousse N, Mariaud de Serre NP. Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome. Am J Kidney Dis. 2007 Jun;49(6):793-800. PMID: 17533022