Ring 11 chromosome (46,XX,r11(p15q25))
- 1 January 1977
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 36 (3) , 345-350
- https://doi.org/10.1007/bf00446287
Abstract
A girl has a stable ring chromosome 11, which does not reveal loss of any chromosomal material. She demonstrates small stature, mild retardation, behavior problems, mild abnormal EEG, prominent sole furrows, increased deep tendon reflexes and hypothyroidism; this latter condition may have contributed to her retardation.This publication has 14 references indexed in Scilit:
- Cytogenetically marked clones in human fibroblasts cultured from normal subjectsSomatic Cell and Molecular Genetics, 1976
- Ring chromosome 6 in a malformed boyClinical Genetics, 1975
- Irregular phenotypic expression of ring chromosomesHumangenetik, 1975
- Observations of de novo clones of cytogentically aberrant cells in primary fibroblast cell strains from phenotypically normal women.1975
- Mental retardation and congenital malformations associated with a ring chromosome 6Clinical Genetics, 1975
- A simple R banding technic.1975
- Variegated translocation mosaicism in human skin fibroblast culturesCytogenetic and Genome Research, 1975
- 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