Wolf‐Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p

An infant girl was referred for a genetic consultation because of facial appearance suggestive of Wolf-Hirschorn syndrome (WHS), growth retardation and generalized hypotonia. She had an unbalanced karyotype 46,XX,der(4)t(4;9)(p15.2;p22)mat resulting in the deletion of the critical region for WHS and duplication of the critical region for the 9p duplication syndrome. The mother and the grandmother of proposita were the carriers of an apparently balanced translocation 46,XX,t(4;9)(p15.2;p22). The infant's phenotype was characteristic of WHS syndrome rather than that of duplication 9p phenotype. This is probably the first description of WHS phenotype resulting from a familial 4;9 translocation.