December 1972

An 18p21q Translocation in a Patient With Presumptive "Monosomy G"

Author Affiliations

From the Division of Human Genetics, Department of Pediatrics, State University of New York at Buffalo Medical School, and Children's Hospital of Buffalo.

Am J Dis Child. 1972;124(6):908-910. doi:10.1001/archpedi.1972.02110180110016

A 3½-year-old retarded girl had multiple congenital anomalies. Cytogenetic analysis revealed a karyotype with a modal number of 2N = 45 and one member of the G (21-22) group consistently absent in lymphocytes and skin fibroblasts. The original diagnosis was "monosomy G" but reanalysis following fluorescence and Giemsa banding techniques demonstrated a translocation involving chromosomes 18 and 21 (45,XX,18-,21-, t[18p21q]). The patient therefore possesses the 18psyndrome and her phenotypic findings are compatible.