4p- phenotype in an infant with t(4p-;19p or q+)mat translocation.
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."
D000015:Abnormalities, Multiple; D001344:Autopsy; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002903:Chromosomes, Human, 19-20; D002905:Chromosomes, Human, 4-5; D002972:Cleft Palate / Q000235:genetics; D003106:Colon / Q000002:abnormalities; D004431:Ear, External / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012640:Seizures / Q000235:genetics; D013577:Syndrome; D014178:Translocation, Genetic