1. Characterization of the Supernumerary Chromosome in Cat Eye Syndrome
- Author
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McDermid He, Nataline Kardon, R Sheehy, Ikuko Teshima, Ellen Magenis, Albert Schinzel, Bradley N. White, John Burn, J. J. A. Holden, Alessandra M.V. Duncan, K. Brasch, and Bernard Noel
- Subjects
Chromosome Aberrations ,Genetics ,Multidisciplinary ,Nucleic Acid Hybridization ,Chromosome Disorders ,DNA ,Syndrome ,Biology ,Molecular biology ,Coloboma ,Chromosome 16 ,Chromosome 4 ,Chromosome 18 ,Chromosome 19 ,Chromosomes, Human, 21-22 and Y ,Humans ,Abnormalities, Multiple ,Chromosome 21 ,Small supernumerary marker chromosome ,Chromosome 22 ,Chromosomes, Human, 13-15 ,Chromosome 13 - Abstract
Most individuals with cat eye syndrome (CES) have a supernumerary bisatellited chromosome which, on the basis of cytogenetic evidence, has been reported to originate from either chromosome 13 or 22. To resolve this question, a single-copy DNA probe, D22S9, was isolated and localized to 22q11 by in situ hybridization to metaphase chromosomes. The number of copies of this sequence was determined in CES patients by means of Southern blots and densitometry analysis of autoradiographs. In patients with the supernumerary chromosome, four copies were found, whereas in one patient with a duplication of part of chromosome 22, there were three copies. Therefore, the syndrome results from the presence of either three or four copies of DNA sequences from 22q11; there is no evidence that sequences from other chromosomes are involved. This work demonstrates how DNA sequence dosage analysis can be used to study genetic disorders that are not readily amenable to standard cytogenetic analysis.
- Published
- 1986
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