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March 1975

4p- Phenotype in an Infant With t(4p-;19p or q + )mat Translocation

Author Affiliations

From the Genetic and Endocrine Unit, Department of Pediatrics, State University of New York, Upstate Medical Center, Syracuse.

Am J Dis Child. 1975;129(3):363-365. doi:10.1001/archpedi.1975.02120400063015

Four family members had an apparently balanced t(4p-;19p or q + ) translocation identified by Giemsa banding. One of these individuals, a male infant, has a 4p- phenotype with seizures, large bilateral cleft palate, abnormal anterior fontanel, abnormally shaped ears, hypertelorism, small penis with third-degree hypospadias, and bilateral simian creases. It is theorized that 4p material containing loci essential for normal development was lost in this infant by a simple deletion or "aneusomy by recombination."