Case Reports
doi: 10.1001/archpedi.1975.02120400063015.
4p- phenotype in an infant with t(4p-;19p or q+)mat translocation
- PMID: 1121967
- DOI: 10.1001/archpedi.1975.02120400063015
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Case Reports
4p- phenotype in an infant with t(4p-;19p or q+)mat translocation
Am J Dis Child.
1975 Mar.
Abstract
Four family members had an apparently balanced t(4p-;19p or q+) translocation indentified 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."
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