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.
6 references, click to expand
-
The characterization of high-resolution G-banded chromosomes of man.Chromosoma. 1978 Aug 14;67(4):293-307 PMID: 357112
-
Gene dose effect: intraband mapping of the LDH A locus using cells from four individuals with different interstitial deletions of 11p.Cytogenet Cell Genet. 1977;19(4):197-207 PMID: 598250
-
Aniridia caused by a heritable chromosome 11 deletion.Ophthalmology. 1979 Jun;86(6):1173-83 PMID: 230439
-
Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13.Cytogenet Cell Genet. 1979;24(3):185-92 PMID: 225131
-
Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report.Ophthalmologica. 1977;176(3):171-7 PMID: 613291
-
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.Pediatrics. 1978 Apr;61(4):604-10 PMID: 208044
Contact
No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong
Qilu Normal University · Genelibs Bioinformatics Lab
750 Shunhua Rd, Jinan
2F, Bldg F, University Science Park
Tel: 0531-88819269
WeChat Official Account
Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.
Business Email
E-mail: product@genelibs.com
Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2
