A new case of a severe clinical phenotype of the cat-eye syndrome.

摘要: A new case of severe clinical phenotype the cat-eye syndrome: We report on a female infant with Cat-Eye Syndrome (CES). At birth, she had respiratory distress and marked hypotonia. Physical examination showed major craniofacial anomalies including microcephaly, bilateral total absence external ears, hypertelorism, ocular coloboma iris micrognathia. In addition, anal stenosis, patent ductus arteriosus intra- extra- hepatic biliary atresia. She deteriorated development bradycardia. died at age one month cardiac failure. Cytogenetic analysis proband an extra de novo small bisatelllited marker chromosome in all cells examined. Molecular cytogenetic fluorescence situ hybridization (FISH) identified as CES chromosome. Thus, patient's karyotype was: 47, XX, +idic(22)(pter-->q11.2 ::q11.2-->pter). The duplication breakpoints giving rise to were distal DiGeorge (DGS) locus 22q11.2. could be classed type 11 symmetrical (10). According recent review literature (1) only 41 % patients have combination coloboma, preauricular anomalies. Almost 60% are hard recognize by their alone. Only twelve leading death child. This phenotypic variability increases difficulties genetic counseling.