Identification of a cat eye syndrome using DNA sequence dosage analysis.
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.
Bulle
F
F
Institut National de la Santé et de la Recherche Médicale, Hôpital Henri Mondor, Créteil, France.
Lespinasse
J
J
Pawlak
A
A
Vadot
E
E
Sastre
J
J
Noël
B
B
Guellaen
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001006:Anus, Imperforate / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure*; D003103:Coloboma / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D007621:Karyotyping; D008297:Male; D012163:Retinal Detachment / Q000235:genetics*; D013577:Syndrome
D004247:DNA