HERITABLE FRAGILE SITES ON HUMAN-CHROMOSOMES .2. DISTRIBUTION, PHENOTYPIC EFFECTS, AND CYTOGENETICS
- 1 January 1979
- journal article
- research article
- Vol. 31 (2) , 136-148
Abstract
Individuals and families were documented in which there are a number of fragile sites on chromosomes. These include sites at 2q11, 10q23, 11q13, 16p124, 16q22, 20p11 and Xq27 or 28. Fragile sites reported in the literature are compiled. The cytogenetics of the sites is discussed, and the phenotypic effects of the sites are considered. Homozygosity of the autosomal sites may be deleterious as is hemizygosity of the site on Xq. These sites are used in the previous report which documents the effect of tissue medium components on their expression.This publication has 26 references indexed in Scilit:
- A FRAGILE SECONDARY CONSTRICTION ON CHROMOSOME 2 IN A SEVERELY MENTALLY RETARDED PATIENTJournal of Intellectual Disability Research, 2008
- Fragile Sites on Human Chromosomes: Demonstration of Their Dependence on the Type of Tissue Culture MediumScience, 1977
- Familial X-linked mental retardation with an X chromosome abnormality.Journal of Medical Genetics, 1977
- Selective endoreduplication or branched chromosome?Experimental Cell Research, 1977
- Correlation between euploid structural chromosome rearrangements and mental subnormality in humansNature, 1974
- Heritable Fragile Site on Chromosome 16: Probable Localization of Haptoglobin Locus in ManScience, 1970
- Familial normal/partial trisomy 16 with selective endoreduplication in malformed probandCytogenetic and Genome Research, 1970
- A HOMOZYGOUS CHROMOSOMAL VARIANTThe Lancet, 1969
- Transformation of foetal human leukocytes in vitro by filtrates of a human leukaemic cell line containing herpes‐like virusInternational Journal of Cancer, 1968
- DELETED CHROMOSOME 18 WITH PATERNAL MOSAICISMThe Lancet, 1967