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ANIRIDIA RESULTING FROM CHROMOSOME 11p13 DELETION (MILLER'S SYNDROME): REPORT OF A CASE
Author(s) -
FRACO M. P. FLAHERTY,
PHD L. BOUSFIELD,
MD D.O. SILLENCE
Publication year - 1984
Publication title -
australian journal of opthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.3
H-Index - 74
eISSN - 1442-9071
pISSN - 0310-1177
DOI - 10.1111/j.1442-9071.1984.tb01156.x
Subject(s) - aniridia , chromosome , genitourinary system , genetics , biology , long arm , medicine , pediatrics , gene , anatomy
Abstract The association of aniridia with partial deletion of the short arm of chromosome number 11, genitourinary abnormalities and mental retardation (AGR triad or Miller's syndrome) has been recognized only in recent years. A 15‐year‐old boy with aniridia and Miller's syndrome is reported with deletion involving the sub‐band 11p13 of the short arm of chromosome 11. Literature review draws attention to the pleiotropic effects of deletions of the short arm of chromosome 11, and the increased risk of development of Wilms' tumour or other embryonal tumours in these children.