title: A new case of a severe clinical phenotype of the cat-eye syndrome.
abstract: A new case of severe clinical phenotype of the cat-eye syndrome: We report on a female infant with severe clinical phenotype of Cat-Eye Syndrome (CES). At birth, she had respiratory distress and marked hypotonia. Physical examination showed major craniofacial anomalies including microcephaly, bilateral total absence of the external ears, hypertelorism, bilateral ocular coloboma of iris and micrognathia. In addition, she had anal stenosis, a patent ductus arteriosus and intra- and extra- hepatic biliary atresia. She deteriorated with the development of bradycardia. She died at age one month of cardiac failure. Cytogenetic analysis of the proband showed an extra de novo small bisatelllited marker chromosome in all cells examined. Molecular cytogenetic analysis with fluorescence in situ hybridization (FISH) identified the marker as a CES chromosome. Thus, the patient's karyotype was: 47, XX, +idic(22)(pter-->q11.2 ::q11.2-->pter). The duplication breakpoints giving rise to the CES chromosome were distal to the DiGeorge Syndrome (DGS) locus 22q11.2. The marker could be classed as a type 11 symmetrical (10). According to a recent review of CES literature (1) only 41 % of the CES patients have the combination of iris coloboma, anal anomalies and preauricular anomalies. Almost 60% are hard to recognize by their phenotype alone. Only twelve patients showed a severe clinical phenotype leading to the death of the child. This phenotypic variability increases the difficulties of genetic counseling.
authors.affiliation: Laboratoire de Cytogénétique et d'Embryologie Pathologique, Hôpital Saint-Antoine Paris, France. tanguy.martin-denavit@chu-lyon.fr
authors.forename: T Martin
authors.initials: TM
authors.lastname: Denavit
authors.forename: V
authors.initials: V
authors.lastname: Malan
authors.forename: C
authors.initials: C
authors.lastname: Grillon
authors.forename: D
authors.initials: D
authors.lastname: Sanlaville
authors.forename: A
authors.initials: A
authors.lastname: Ardalan
authors.forename: M L
authors.initials: ML
authors.lastname: Jacquemont
authors.forename: L
authors.initials: L
authors.lastname: Burglen
authors.forename: J L
authors.initials: JL
authors.lastname: Taillemite
authors.forename: M F
authors.initials: MF
authors.lastname: Portnoi
mesh_terms: D001003:Anal Canal / Q000002:abnormalities; D001919:Bradycardia / Q000175:diagnosis / Q000503:physiopathology; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003103:Coloboma / Q000235:genetics*; D003251:Constriction, Pathologic / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods; D004423:Ear / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D020440:Gene Duplication; D005817:Genetic Counseling; D005819:Genetic Markers; D006333:Heart Failure / Q000175:diagnosis / Q000503:physiopathology; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype; D012720:Severity of Illness Index; D013577:Syndrome
chemical_list: D005819:Genetic Markers