Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8).
We describe two sibs with the unbalanced translocation der(6)t(6;8)(p25.1;q24.23), making them monosomic for 6p25.1-->6pter and trisomic for 8q24.23-->8qter. The siblings both possess Axenfeld-Rieger Anomaly (ARA), hypertelorism, clinodactyly, and cardiac anomalies, but otherwise vary in the phenotypic manifestations of this unbalanced translocation. We compare them to previously described cases and a recently proposed syndrome of ARA, atrial septal defect, and sensorineural deafness.
Baruch
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AC
Angel Charity for Children-Wings for Genetic Research, Department of Pediatrics, Section of Medical and Molecular Genetics, University of Arizona College of Medicine, Tucson, Arizona 85724-5073, USA.
Erickson
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RP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000869:Anterior Eye Segment / Q000002:abnormalities / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D002898:Chromosomes, Human, Pair 8; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007223:Infant; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics