Aniridia-Wilms' tumor association and 11p interstitial deletion

Abstract

An 11p interstitial deletion is reported in a severely mentally retarded boy with aniridia, genito-urinary anomalies, and distinct craniofacial dysmorphism. At the age of 4 years a large Wilms' tumor of the right kidney was diagnosed.

Male pseudohermaphroditism, partial androgen receptors defect, 11p13 deletion: Indication of gene localization

“…In a recent review from the literature, Turleau et a1 [1984] collected case histories of 13 girls and 25 boys with llp13 deletion. The 13 girls had normal female external genitalia; 20 boys out of 25 had genital anomalies [Cotlier et al, 1978;Fryns et al, 1981;Gilgenkrantz et al, 1982;Hittner et al, 1979;Junien et al, 1980;Koussef, 1981;Marshall et al, 1982;Niikawa et al, 1982, Riccardi et al, 1978Shannon et al, 1982;Turleau et al, 19811. Therefore, we decided to study the mechanism of a male pseudohermaphroditism in a boy with this deletion.…”

Analysis of Pax6 Contiguous Gene Deletions in the Mouse, Mus musculus, Identifies Regions Distinct from Pax6 Responsible for Extreme Small-Eye and Belly-Spotting Phenotypes

“…This deletion information combined with the annotation of the human genome structure provides critical information to identify genes responsible for particular phenotypes associated with a syndrome. For example, deletions of the 11p11p12 and 11p13 regions on the short arm of human chromosome (Chr) 11 have been identified in the Potocki-Shaffer syndrome (Shaffer et al 1993;Bartsch et al 1996;Potocki and Shaffer 1996) and the Wilm's tumor-aniridia-genitourinary abnormalities-mental retardation (WAGR) syndrome (Riccardi et al 1978;Francke et al 1979;Hittner et al 1979;Fryns et al 1981), respectively. Deletion analyses were important in identifying genes associated with clinical features of the syndromes: EXT2 for multiple exostoses and ALX4 for parietal foramina in Potocki-Shaffer syndrome (Ligon et al 1998;Wu et al 2000;Wakui et al 2005), WT1 for Wilm's tumor, and PAX6 for aniridia in WAGR syndrome (van Heyningen et al 1985;Glaser et al 1986Glaser et al , 1992Fantes et al 1992).…”

Bilateral nephroblastoma associated with a 3;17 translocation

“…Francke et al (1977) and Riccardi et al (1978) noted a deletion of 11 p 13 in peripheral blood lymphocytes of patients with unilateral Wilms' tum or associated with aniridia. These observations were con firmed by others studying peripheral blood lym phocytes o f patients with unilateral or bilateral Wilms' tum or and aniridia (Francke et al, 1979;Yunis and Ramsay, 1980;Fryns et al, 1981). The same 11 p 13 deletion was shown to occur in tum or nephroblast cells o f one patient without aniridia and with a normal karyotype in peripheral lymphocytes (Kaneko et al, 1981).…”