[WAGR syndrome, Wilms' tumor, aniridia, gonadoblastoma, mental retardation: a review apropos of 2 cases].
From 41 reviewed cases and 2 personal observations of the WAGR syndrome, the main symptoms and their relative frequency are described: aniridia, mental retardation, Wilms' tumor. Sexual anomalies and gonadoblastoma are less frequent. The chromosomic micro-deletion can be shown by using highly sophisticated cytogenetic techniques, or suspected by blood enzymatic dosage (mainly catalase). Kidney echographic follow-up is highly recommended.
Mochon
M C
MC
Service de pédiatrie, Hôpital Lucien-Hussel, Vienne, France.
Blanc
J F
JF
Plauchu
H
H
Philip
T
T
D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11; D012734:Disorders of Sex Development / Q000235:genetics; D004407:Dysgerminoma / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007498:Iris / Q000002:abnormalities*; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D009396:Wilms Tumor / Q000235:genetics*
Syndrome WAGR, Wilms, aniridie, gonadoblastome, retard mental: revue générale à propos de deux observations.