The case presented here may be the first fully identified and verified case of translocation 4p− syndrome, a B4/G22 translocation, ie, 45,XX,−4,−22, + t(4q 22q). Thirty-nine other cases of the 4p− syndrome, including one other possible translocation case, have been found in the medical literature. Conventional chromosome studies cannot distinguish between 4p− (Wolf) syndrome and 5p− (cri-du-chat) syndrome, and the clinical features, as in our case, may not be sufficiently characteristic to permit differentiation. The newer chromosome banding techniques have made specific identification possible.
Centerwall WR, Thompson WP, Allen IE, Fobes CD. Translocation 4p− Syndrome: A General Review. Am J Dis Child. 1975;129(3):366–370. doi:10.1001/archpedi.1975.02120400066017
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.