Aniridia, mental retardation and an unbalanced reciprocal translocation of chromosomes 8 and 11 with an interstitial deletion of 11p.
A mentally retarded female with aniridia, microcephaly and no other major malformations has been studied using G-banded prometaphase chromosomes. This study revealed a reciprocal translocation of chromosome 8 and chromosome 11 with one break point in 8q and two breakpoints in 11p. An interstitial segment of 11p is lost. Both parents have a normal karyotype. The importance of chromosome analyses of patients with aniridia and mental retardation is discussed.
D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D007498:Iris / Q000002:abnormalities*; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics; D014178:Translocation, Genetic