We have identified a female patient with a complex phenotype that includes complete agenesis of the corpus callosum, bilateral periventricular nodular heterotopia, and bilateral chorioretinal and iris colobomas. Karyotype analysis revealed an apparently balanced, reciprocal, de novo chromosome translocation t(2;9)(p24,q32). Physical mapping of the translocation breakpoint by fluorescence in situ hybridization and PCR analysis led to the identification of two novel, ubiquitously expressed, Zn-finger-encoding transcripts that are disrupted in this patient. Unexpectedly, the rearrangement produced in-frame reciprocal fusion transcripts, making genotype-phenotype correlation difficult.
Bibliographical noteFunding Information:
supported by NIH Grant P01 NS39404 to WBD and DHL, Medical Scientist National Research Service Award Grant No. PHS 5 T 32 GM07281 to IG and a Brain Research Foundation grant to KJM.
- CNS development
- Corpus callosum agenesis
- Periventricular nodular heterotopia