Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation.
- 1 December 1977
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 14 (6), 451-455
- https://doi.org/10.1136/jmg.14.6.451
Abstract
A ring chromosome 8 was found in peripheral blood cells in a boy, whose chromosomes were studied because of multiple congenital anomalies. Examination of skin cells revealed a 46,XY/46,XY,8r pattern. Application of several banding techniques suggested a duplication of the most distal bands of both arms in the ring. The terminal end of 8q appeared to have been retained as could be shown by R[reverse]-banding. The anesthesia and surgery the mother underwent in the 1st mo. of her pregnancy is considered as a possible cause of the chromosome abnormality.This publication has 16 references indexed in Scilit:
- A new chromosome deletion syndrome. Report of a patient with a 46, XY,8p‐ chromosome constitutionClinical Genetics, 1976
- Mental retardation and congenital malformations associated with a ring chromosome 9Human Genetics, 1976
- BANDING IDENTIFICATION OF CHROMOSOMAL ABNORMALITIES IN FOUR PATIENTS: RING (6), TRANSLOCATION (2q‐;15q+), TRANSLOCATION (21q;21q) AND DELETION (22q‐)Journal of Intellectual Disability Research, 1975
- Mental retardation and congenital malformations associated with a ring chromosome 6Clinical Genetics, 1975
- [A case of annular chromosome 9. Indentification by controlled denaturation].1974
- Developmental Abnormalities Associated with a Ring Chromosome 6Journal of Medical Genetics, 1973
- A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girlClinical Genetics, 1973
- Ring chromosome 7 with variable phenotypic expressionCytogenetic and Genome Research, 1973
- Ring-chromosom 18Human Genetics, 1972
- Comparative behavior of ring chromosomes.1970