title: Identification of a cat eye syndrome using DNA sequence dosage analysis.
abstract: 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.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale, Hôpital Henri Mondor, Créteil, France.
authors.forename: F
authors.initials: F
authors.lastname: Bulle
authors.forename: J
authors.initials: J
authors.lastname: Lespinasse
authors.forename: A
authors.initials: A
authors.lastname: Pawlak
authors.forename: E
authors.initials: E
authors.lastname: Vadot
authors.forename: J
authors.initials: J
authors.lastname: Sastre
authors.forename: B
authors.initials: B
authors.lastname: Noël
authors.forename: G
authors.initials: G
authors.lastname: Guellaen
mesh_terms: 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
chemical_list: D004247:DNA