Peer-Reviewed Journal Details
Mandatory Fields
Bulle, F and Lespinasse, J and Pawlak, A and Vadot, E and Sastre, J and Noel, B and Guellaen, G;
1996
Identification of a Cat Eye Syndrome using DNA sequence dosage analysis
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39
3
139
143
We report here the detection of a Cat Eye Syndrome (CES) in a woman who does not exhibit the related phenotype, due to intensive surgery. The analysis of her karyotype reveals a small supernumerary bisatellited chromosome likely to correspond to a fragment of chromosome 13, 15, 21 or 22 on banding analysis, Southern blot of genomic DNA of this patient and her parents hybridized with probes specific of these chromosomes, :revealed a DNA amplification of the 22q11 region for the patient, likely to correspond to a CES.
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