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March 1975

Translocation 4p− Syndrome: A General Review

Author Affiliations

From the Genetics-Birth Defects Service, Department of Pediatrics, and Clinical Laboratory, Loma Linda (Calif) University Medical Center (Drs. Centerwall and Thompson); and the Birth Defects Center, St. Bernardine's Hospital, and Department of Pathology, San Bernardino (Calif) Community Hospital (Drs. Allen and Fobes).

Am J Dis Child. 1975;129(3):366-370. doi:10.1001/archpedi.1975.02120400066017

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.

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