Expanding the Clinical Presentation of Wisconsin Syndrome: A 3q24q25.3 Deletion Including ZIC1 and ZIC4

Karakaya, M. (2024). Expanding the Clinical Presentation of Wisconsin Syndrome: A 3q24q25.3 Deletion Including ZIC1 and ZIC4 (Version 1) [DataSet]. GestaltMatcher Database.

We present a 4.5-year-old girl with feeding difficulties and muscular hypertonia in infancy, followed by marked global developmental delay. Independent walking was achieved at 2.5 years, with persistent gait instability and coordination problems. Speech development was severely delayed, with single-word use but no sentence formation. Additional findings included motor stereotypies, outbursts of aggression in situations of uncertainty, and self-injurious behavior. Cranial MRI demonstrated a Dandy–Walker malformation. Physical examination revealed arched eyebrows with synophrys, broad nose, widely spaced teeth, prominent upper lip, dry skin with neurodermatitis over the hands, and a single café-au-lait macule on the chest. Growth parameters were within the normal range, and family history was unremarkable. Conventional karyotyping showed a structural chromosomal abnormality with an interstitial deletion on chromosome 3q. Array-CGH confirmed a heterozygous 11.3 Mb deletion in 3q24q25.3, encompassing the critical region of the autosomal dominant 3q24q25 deletion syndrome (Wisconsin syndrome). The deletion also included ZIC1 and ZIC4, genes associated with Dandy–Walker malformation. Taken together, the patient’s phenotype is consistent with the molecular diagnosis of 3q24q25.3 deletion syndrome (Wisconsin syndrome).