Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation.
Aicardi's syndrome, which is characterized by agenesis of the corpus callosum, specific chorioretinal abnormalities, and defects of vertebrae and ribs, is considered a probable X-linked dominant trait with male lethality. All features of this syndrome were seen in a girl with a de novo balanced X/3 translocation (46,X,t(X;3)(p22;q12)). It is hypothesized that the clinical picture is the consequence of chromosome breakage within the Aicardi locus. Then, unusual X-inactivation patterns in blood and fibroblasts of this patient can be explained by somatic selection against cells with the Aicardi phenotype.
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure; D004303:Dosage Compensation, Genetic; D005124:Eye Abnormalities; D005260:Female; D005347:Fibroblasts; D006801:Humans; D007621:Karyotyping; D012729:Sex Chromosome Aberrations; D012863:Skeleton / Q000002:abnormalities; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome