Partial Deletion of the Short Arms of a Chromosome of the 4-5 Group (Denver)

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Abstract
In a boy aged 4 years, partial deletion of the short arms of a chromosome in the 4-5 groups was found in all the cells from skin and blood that were examined. The boy presented somatic dwarfing, microcephaly, micro-retrognathia, congenital stridor, hypertelorism, epicanthus, low-set ears, transverse palmar creases in both hands, and severe mental retardation. Similar findings were described previously in 3 somewhat younger patients by Lejeune and his co-workers.