Aniridia--Wilms' tumour association--a case with 11p 13-14.1 deletion and ventricular septal defect.
A two year old female child with bilateral wilms tumor (WT) along with multiple congenital anomalies like bilateral aniridia with congenital cataracts and nystagmus, microcephaly, mental retardation and ventricular septal defect has been described. The karyotype analysis revealed 46 xx, del 11p 13-14.1. Association of ventricular septal defect with the classical features of 'Aniridia-Wilms' tumor association' is an unusual feature in this case.
Rao
S R
SR
Department of Medical Oncology, Tata Memorial Hospital, Parel, Bombay, India.
Athale
U H
UH
Kadam
P R
PR
Gladstone
B
B
Nair
C N
CN
Pai
S K
SK
Kurkure
P A
PA
Advani
S H
SH
D015783:Aniridia / Q000150:complications* / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000502:physiology*; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000150:complications* / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D009396:Wilms Tumor / Q000150:complications* / Q000235:genetics*