Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27)
- 1 January 1986
- journal article
- research article
- Published by Taylor & Francis in Ophthalmic Paediatrics and Genetics
- Vol. 7 (3) , 167-173
- https://doi.org/10.3109/13816818609004134
Abstract
The authors describe a six-year-old boy with cone dystrophy, mental retardation, facial dysmorphism and short neck, hands and feet in whom they found a 1:6 chromosomal translocation. This is the first description of retinal cone dystrophy and a chromosomal aberration. They hypothesize that the cone dystrophy in the patient may be assigned to 1q44 or 6q27.Keywords
This publication has 23 references indexed in Scilit:
- Deletion of the distal long arm of chromosome 1: A definable syndromeAmerican Journal of Medical Genetics, 1985
- Nome's disease: close linkage with genetic markers from the proximal short arm of the X chromosomeClinical Genetics, 1985
- Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation.Journal of Medical Genetics, 1984
- Expression of recessive alleles by chromosomal mechanisms in retinoblastomaNature, 1983
- Correlation between immunoglobulin light chain expression and variant translocation in Burkitt's lymphomaNature, 1982
- Aniridia, Cataract and Gonadoblastoma in a Mentally Retarded Girl with Deletion of Chromosome 11Ophthalmologica, 1978
- Chromosomal anomalies in patients with retinoblastomaClinical Genetics, 1977
- Replication pattern of the X chromosomes in three X/autosomal translocationsCytogenetic and Genome Research, 1977
- A FAMILIAL SYNDROME OF PROGRESSIVE CONE DYSTROPHY, DEGENERATIVE LIVER DISEASE, ENDOCRINE DYSFUNCTION AND HEARING DEFECTActa Ophthalmologica, 1976
- High Resolution of Human ChromosomesScience, 1976