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Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature
Author(s) -
Turleau Catherine,
Grouchy Jean,
Tournade MarieFrance,
Gagnadoux MarieFrance,
Junien Claudine
Publication year - 1984
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1984.tb01071.x
Subject(s) - aniridia , genitourinary system , locus (genetics) , pax6 , catalase , genetics , gene , biology , medicine , transcription factor , oxidative stress
Three patients (two females, one male) are reported with bilateral aniridia, Wilms' tumor, more or less moderate mental retardation, decreased catalase activity, and del 1 lp13. These and 34 case reports from the literature are discussed with respect to: sex ratio, maternal age, type of chromosomal imbalance and frequency of associated rearrangements, prevalence of aniridia and other eye disorders, predisposition to tumor development, genitourinary anomalies, growth and mental retardation, and catalase involvement. Possible gene relationship within the complex locus and with neighbouring 1 lp genes is discussed.