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Science 2 May 1986:
Vol. 232. no. 4750, pp. 646 - 648
DOI: 10.1126/science.3961499
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Articles
Science, Vol 232, Issue 4750, 646-648
Copyright © 1986 by American Association for the Advancement of Science
Characterization of the supernumerary chromosome in cat eye syndrome
HE McDermid,
AM Duncan,
KR Brasch,
JJ Holden,
E Magenis,
R Sheehy,
J Burn,
N Kardon,
B Noel,
A Schinzel,
and
al. et
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.
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- Analysis of the Cat Eye Syndrome Critical Region in Humans and the Region of Conserved Synteny in Mice: A Search for Candidate Genes at or near the Human Chromosome 22 Pericentromere.
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- Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.
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- Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.
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- H E McDermid, K E McTaggart, M A Riazi, T J Hudson, M L Budarf, B S Emanuel, and C J Bell (1996)
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