Abnormal chromosome 22 and recurrence of trisomy 22 syndrome

Abstract

Trisomy 22 was confirmed with both Q and G banding in 2 sibs. Growth and mental retardation plus various dysmorphic features of this syndrome are described and compared with previous reports. Cytogenetic studies reveal a morphologically atypical No. 22 in cells of the phenotypically normal mother (46,XX) and in both affected children. The variant G chromosome is identified as No. 22 by Q and G banding and is interpreted as a product of a pericentric inversion on the basis of general length, arm ratio (1.4), and anomalous satellite association frequency. Repeated nondisjunction for No. 22 is considered to have resulted from asynapsis caused by interference in formation of an inversion loop configuration which, though short, comprised a major part of chromosome 22.