[WAGR syndrome: a case report].
OBJECTIVE
WAGR syndrome is a rare syndrome which involves microdeletions of the short arm of chromosome 11 at band 11p13. The clinical features are Wilms' tumor, amiridia, genitourinary abnormalities and mental retardation. There are very few reported cases. We report a new case of WAGR syndrome and review the literature.


METHODS
Chromosome preparations were obtained from lymphocyte cultures of peripheral blood. For chromosome analysis GTG banding and fluorescent "in situ" hybridization (FISH) were used.


RESULTS
Chromosomal analysis revealed deletion of p12-p13 bands. Our patient had bilateral aniridia, Wilms' tumor and cryptorquidia.


CONCLUSIONS
The karyotype was 46, XY, del (11)(p12-p13). The p13 band deletion was the cause of the WAGR syndrome.
Moreno García
M
M
Hospital 12 de Octubre, Servicio de Genética, Madrid.
Sánchez del Pozo
J
J
Fernández Martínez
F J
FJ
Moreno-Izquierdo
A
A
Barreiro Miranda
E
E
D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D017624:WAGR Syndrome / Q000235:genetics*
Síndrome de WAGR. A propósito de un caso.