Phenotypic variability of cat-eye syndrome

M. J W Berends, G. Tan-Sindhunata, B. Leegte, A. J. Van Essen

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Abstract

Phenotypic variability of cat-eye syndrome: Cat-Eye syndrome (CES) is a disorder with a variable pattern of multiple congenital anomalies of which coloboma of the iris and anal atresia are the best known. CES is cytogenetically characterised by the presence of an extra bisatellited marker chromosome, which represents an inverted dicentric duplication of a part of chromosome 22 (inv dup(22)). We report on three CES-patients who carry an inv dup(22) diagnosed with FISH studies. They show remarkable phenotypic variability. The cause of this variability is unknown. Furthermore, we review clinical features of 71 reported patients. Only 41% of the CES-patients have the combination of iris coloboma, anal anomalies and pre-auricular anomalies. Therefore, almost 60% of the CES-patients are hard to recognize by their phenotype alone. Mild to moderate mental retardation was found in 32% (16/50) of the cases. Mental retardation occurs more frequently in male CES-patients. There is no apparent phenotypic difference between mentally retarded and mentally normal CES-patients.

Original languageEnglish
Pages (from-to)23-34
Number of pages12
JournalGenetic Counseling
Volume12
Issue number1
Publication statusPublished - 10 Apr 2001

Cite this

Berends, M. J. W., Tan-Sindhunata, G., Leegte, B., & Van Essen, A. J. (2001). Phenotypic variability of cat-eye syndrome. Genetic Counseling, 12(1), 23-34.